nsv818379
- Organism: Homo sapiens
- Study:nstd64 (Wang et al. 2007)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,793
- Publication(s):Wang et al. 2007
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: 311 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 311 SVs from 63 studies. See in: genome view
Overlapping variant regions from other studies: 22 SVs from 7 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv818379 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nsv818379 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nsv818379 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv1415648 | copy number loss | NA12249 | SNP array | Probe signal intensity | 20 |
| nssv1415695 | copy number loss | NA19141 | SNP array | Probe signal intensity | 31 |
| nssv1415706 | copy number loss | NA19142 | SNP array | Probe signal intensity | 34 |
| nssv1415759 | copy number loss | NA12874 | SNP array | Probe signal intensity | 16 |
| nssv1416157 | copy number loss | NA12892 | SNP array | Probe signal intensity | 30 |
| nssv1416158 | copy number loss | NA12878 | SNP array | Probe signal intensity | 28 |
| nssv1416240 | copy number loss | NA12056 | SNP array | Probe signal intensity | 26 |
| nssv1416544 | copy number loss | NA19171 | SNP array | Probe signal intensity | 26 |
| nssv1416545 | copy number loss | NA19172 | SNP array | Probe signal intensity | 29 |
| nssv1416639 | copy number loss | NA19119 | SNP array | Probe signal intensity | 24 |
| nssv1416640 | copy number gain | NA19116 | SNP array | Probe signal intensity | 24 |
| nssv1416738 | copy number loss | NA19159 | SNP array | Probe signal intensity | 45 |
| nssv1416740 | copy number loss | NA19161 | SNP array | Probe signal intensity | 37 |
| nssv1417866 | copy number loss | NA18853 | SNP array | Probe signal intensity | 37 |
| nssv1417867 | copy number loss | NA18854 | SNP array | Probe signal intensity | 30 |
| nssv1418151 | copy number loss | NA19144 | SNP array | Probe signal intensity | 35 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv1415648 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1415695 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1415706 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1415759 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1416157 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1416158 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1416240 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1416544 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1416545 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1416639 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1416640 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)dup | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1416738 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1416740 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1417866 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1417867 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1418151 | Remapped | Perfect | NC_000005.10:g.(?_ 118054669)_(118057 461_?)del | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 118,054,669 | 118,057,461 |
| nssv1415648 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1415695 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1415706 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1415759 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1416157 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1416158 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1416240 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1416544 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1416545 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1416639 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1416640 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)dup | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1416738 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1416740 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1417866 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1417867 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1418151 | Remapped | Perfect | NC_000005.9:g.(?_1 17390364)_(1173931 56_?)del | GRCh37.p13 | First Pass | NC_000005.9 | Chr5 | 117,390,364 | 117,393,156 |
| nssv1415648 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1415695 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1415706 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1415759 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1416157 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1416158 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1416240 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1416544 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1416545 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1416639 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1416640 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)dup | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1416738 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1416740 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1417866 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1417867 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 | ||
| nssv1418151 | Submitted genomic | NC_000005.8:g.(?_1 17418263)_(1174210 55_?)del | NCBI35 (hg17) | NC_000005.8 | Chr5 | 117,418,263 | 117,421,055 |