nsv441735
- Organism: Homo sapiens
- Study:nstd22 (McCarroll et al. 2008)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:17
- Validation:Not tested
- Clinical Assertions: No
- Region Size:5,422
- Publication(s):McCarroll 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: 300 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 306 SVs from 66 studies. See in: genome view
Overlapping variant regions from other studies: 4 SVs from 3 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv441735 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nsv441735 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nsv441735 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv1656864 | copy number loss | NA10838 | SNP array | Probe signal intensity | 1 | 151 |
| nssv1656865 | copy number loss | NA10847 | SNP array | Probe signal intensity | 1 | 150 |
| nssv1656866 | copy number loss | NA10863 | SNP array | Probe signal intensity | 1 | 176 |
| nssv1656867 | copy number loss | NA12004 | SNP array | Probe signal intensity | 1 | 161 |
| nssv1656868 | copy number loss | NA12146 | SNP array | Probe signal intensity | 1 | 154 |
| nssv1656869 | copy number loss | NA12234 | SNP array | Probe signal intensity | 1 | 187 |
| nssv1656870 | copy number loss | NA12740 | SNP array | Probe signal intensity | 1 | 160 |
| nssv1656871 | copy number loss | NA12750 | SNP array | Probe signal intensity | 1 | 156 |
| nssv1656872 | copy number loss | NA12753 | SNP array | Probe signal intensity | 1 | 168 |
| nssv1656873 | copy number loss | NA12763 | SNP array | Probe signal intensity | 0 | 170 |
| nssv1656874 | copy number loss | NA18537 | SNP array | Probe signal intensity | 1 | 164 |
| nssv1656875 | copy number loss | NA18540 | SNP array | Probe signal intensity | 1 | 104 |
| nssv1656876 | copy number loss | NA18622 | SNP array | Probe signal intensity | 1 | 147 |
| nssv1656877 | copy number loss | NA18952 | SNP array | Probe signal intensity | 1 | 148 |
| nssv1656878 | copy number loss | NA18973 | SNP array | Probe signal intensity | 1 | 163 |
| nssv1656879 | copy number loss | NA18990 | SNP array | Probe signal intensity | 1 | 157 |
| nssv1656880 | copy number loss | NA19000 | SNP array | Probe signal intensity | 1 | 161 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1656864 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656865 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656866 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656867 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656868 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656869 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656870 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656871 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656872 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656873 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656874 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656875 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656876 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656877 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656878 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656879 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656880 | Remapped | Perfect | NC_000001.11:g.(?_ 212831673)_(212837 094_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 212,831,673 | 212,837,094 |
| nssv1656864 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656865 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656866 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656867 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656868 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656869 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656870 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656871 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656872 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656873 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656874 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656875 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656876 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656877 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656878 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656879 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656880 | Remapped | Perfect | NC_000001.10:g.(?_ 213005015)_(213010 436_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 213,005,015 | 213,010,436 |
| nssv1656864 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656865 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656866 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656867 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656868 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656869 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656870 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656871 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656872 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656873 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656874 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656875 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656876 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656877 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656878 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656879 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 | ||
| nssv1656880 | Submitted genomic | NC_000001.8:g.(?_2 09393410)_(2093988 31_?)del | NCBI35 (hg17) | NC_000001.8 | Chr1 | 209,393,410 | 209,398,831 |