nsv428406
- Organism: Homo sapiens
- Study:nstd8 (Perry et al. 2008b)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI36 (hg18)
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:174,577
- Publication(s):Perry et al. 2008
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 529 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 529 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 150 SVs from 19 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nsv428406 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nsv428406 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nsv428406 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
---|---|---|---|---|---|
nssv454152 | copy number gain | HGDP00449 | BAC aCGH | Probe signal intensity | 126 |
nssv454153 | copy number gain | HGDP00450 | BAC aCGH | Probe signal intensity | 88 |
nssv454155 | copy number gain | HGDP00462 | BAC aCGH | Probe signal intensity | 83 |
nssv454156 | copy number gain | HGDP00463 | BAC aCGH | Probe signal intensity | 90 |
nssv454157 | copy number gain | HGDP00467 | BAC aCGH | Probe signal intensity | 75 |
nssv454158 | copy number gain | HGDP00472 | BAC aCGH | Probe signal intensity | 65 |
nssv454159 | copy number gain | HGDP00474 | BAC aCGH | Probe signal intensity | 56 |
nssv454160 | copy number gain | HGDP00984 | BAC aCGH | Probe signal intensity | 75 |
nssv454161 | copy number gain | HGDP01086 | BAC aCGH | Probe signal intensity | 52 |
nssv454162 | copy number gain | HGDP01087 | BAC aCGH | Probe signal intensity | 75 |
nssv454163 | copy number gain | HGDP01089 | BAC aCGH | Probe signal intensity | 65 |
nssv454164 | copy number loss | NA18498 | BAC aCGH | Probe signal intensity | 97 |
nssv454166 | copy number loss | NA18916 | BAC aCGH | Probe signal intensity | 90 |
nssv454167 | copy number gain | NA19096 | BAC aCGH | Probe signal intensity | 100 |
nssv454168 | copy number loss | NA19108 | BAC aCGH | Probe signal intensity | 84 |
nssv454169 | copy number loss | NA19113 | BAC aCGH | Probe signal intensity | 122 |
nssv454170 | copy number gain | NA19147 | BAC aCGH | Probe signal intensity | 75 |
nssv454171 | copy number gain | NA19181 | BAC aCGH | Probe signal intensity | 87 |
nssv454172 | copy number gain | NA19189 | BAC aCGH | Probe signal intensity | 94 |
nssv454173 | copy number gain | NA19225 | BAC aCGH | Probe signal intensity | 71 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv454152 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454153 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454155 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454156 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454157 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454158 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454159 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454160 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454161 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454162 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454163 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454164 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454166 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454167 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454168 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454169 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)del | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454170 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454171 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454172 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454173 | Remapped | Perfect | NC_000002.12:g.(?_ 213326553)_(213501 129_?)dup | GRCh38.p12 | First Pass | NC_000002.12 | Chr2 | 213,326,553 | 213,501,129 |
nssv454152 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454153 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454155 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454156 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454157 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454158 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454159 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454160 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454161 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454162 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454163 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454164 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454166 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454167 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454168 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454169 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)del | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454170 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454171 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454172 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454173 | Remapped | Perfect | NC_000002.11:g.(?_ 214191277)_(214365 853_?)dup | GRCh37.p13 | First Pass | NC_000002.11 | Chr2 | 214,191,277 | 214,365,853 |
nssv454152 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454153 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454155 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454156 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454157 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454158 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454159 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454160 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454161 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454162 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454163 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454164 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454166 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454167 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454168 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454169 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)del | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454170 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454171 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454172 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 | ||
nssv454173 | Submitted genomic | NC_000002.10:g.(?_ 213899522)_(214074 098_?)dup | NCBI36 (hg18) | NC_000002.10 | Chr2 | 213,899,522 | 214,074,098 |