nsv482765
- Organism: Homo sapiens
- Study:nstd40 (Sharp et al. 2006)
- Variant Type:copy number variation
- Method Type:BAC aCGH
- Submitted on:NCBI34 (hg16)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:170,516
- Publication(s):Sharp et al. 2006
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: 1466 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1495 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 3 SVs from 1 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 |
---|---|---|---|---|---|---|---|---|---|
nsv482765 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 21,441,987 | 21,612,502 |
nsv482765 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 21,442,096 | 21,612,611 |
nsv482765 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000005.7 | Chr5 | 21,487,597 | 21,658,112 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv3006071 | copy number gain | BAC aCGH | Probe signal intensity |
nssv3007179 | copy number gain | BAC aCGH | Probe signal intensity |
nssv3007874 | copy number loss | BAC aCGH | Probe signal intensity |
nssv3008238 | copy number gain | BAC aCGH | Probe signal intensity |
nssv3008501 | copy number gain | BAC aCGH | Probe signal intensity |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv3006071 | Remapped | Perfect | NC_000005.10:g.(?_ 21441987)_(2161250 2_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,441,987 | 21,612,502 |
nssv3007179 | Remapped | Perfect | NC_000005.10:g.(?_ 21441987)_(2161250 2_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,441,987 | 21,612,502 |
nssv3007874 | Remapped | Perfect | NC_000005.10:g.(?_ 21441987)_(2161250 2_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,441,987 | 21,612,502 |
nssv3008238 | Remapped | Perfect | NC_000005.10:g.(?_ 21441987)_(2161250 2_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,441,987 | 21,612,502 |
nssv3008501 | Remapped | Perfect | NC_000005.10:g.(?_ 21441987)_(2161250 2_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 21,441,987 | 21,612,502 |
nssv3006071 | Remapped | Perfect | NC_000005.9:g.(?_2 1442096)_(21612611 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,442,096 | 21,612,611 |
nssv3007179 | Remapped | Perfect | NC_000005.9:g.(?_2 1442096)_(21612611 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,442,096 | 21,612,611 |
nssv3007874 | Remapped | Perfect | NC_000005.9:g.(?_2 1442096)_(21612611 _?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,442,096 | 21,612,611 |
nssv3008238 | Remapped | Perfect | NC_000005.9:g.(?_2 1442096)_(21612611 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,442,096 | 21,612,611 |
nssv3008501 | Remapped | Perfect | NC_000005.9:g.(?_2 1442096)_(21612611 _?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 21,442,096 | 21,612,611 |
nssv3006071 | Submitted genomic | NC_000005.7:g.(?_2 1487597)_(21658112 _?)dup | NCBI34 (hg16) | NC_000005.7 | Chr5 | 21,487,597 | 21,658,112 | ||
nssv3007179 | Submitted genomic | NC_000005.7:g.(?_2 1487597)_(21658112 _?)dup | NCBI34 (hg16) | NC_000005.7 | Chr5 | 21,487,597 | 21,658,112 | ||
nssv3007874 | Submitted genomic | NC_000005.7:g.(?_2 1487597)_(21658112 _?)del | NCBI34 (hg16) | NC_000005.7 | Chr5 | 21,487,597 | 21,658,112 | ||
nssv3008238 | Submitted genomic | NC_000005.7:g.(?_2 1487597)_(21658112 _?)dup | NCBI34 (hg16) | NC_000005.7 | Chr5 | 21,487,597 | 21,658,112 | ||
nssv3008501 | Submitted genomic | NC_000005.7:g.(?_2 1487597)_(21658112 _?)dup | NCBI34 (hg16) | NC_000005.7 | Chr5 | 21,487,597 | 21,658,112 |