nsv4382620
- Organism: Homo sapiens
- Study:nstd173 (Zarrei et al. 2019)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:168,004
- Publication(s):Zarrei et al. 2019
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: 4024 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 2648 SVs from 75 studies. See in: genome view
Overlapping variant regions from other studies: 3657 SVs from 93 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv4382620 | Remapped | Good | GRCh38.p12 | Primary Assembly | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nsv4382620 | Remapped | Good | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nsv4382620 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Other Calls in this Sample and Study |
|---|---|---|---|---|---|
| nssv15616527 | copy number gain | 1-0848-003 | SNP array | Genotyping | 26 |
| nssv15626543 | copy number gain | 1-0441-004 | SNP array | Genotyping | 26 |
| nssv15632505 | copy number gain | 10-0018-003 | SNP array | Genotyping | 22 |
| nssv15641731 | copy number gain | 14-0271-004 | SNP array | Genotyping | 21 |
| nssv15644745 | copy number gain | 16-1001-003 | SNP array | Genotyping | 29 |
| nssv15645709 | copy number gain | 16-1021-003 | SNP array | Genotyping | 14 |
| nssv15658020 | copy number gain | 3-0536-000 | SNP array | Genotyping | 12 |
| nssv15659322 | copy number gain | 3-0647-000 | SNP array | Genotyping | 13 |
| nssv15668622 | copy number gain | 7-0211-003 | SNP array | Genotyping | 20 |
| nssv15683894 | copy number gain | OCD136-896483 | SNP array | Genotyping | 15 |
| nssv15688310 | copy number gain | OCD49-S_0625-7114-1 | SNP array | Genotyping | 20 |
| nssv15692314 | copy number gain | OCD55-0625-9391-1 | SNP array | Genotyping | 23 |
| nssv15701270 | copy number gain | 179937 | SNP array | Genotyping | 10 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv15616527 | Remapped | Good | NT_187600.1:g.(?_5 36823)_(704826_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nssv15626543 | Remapped | Good | NT_187600.1:g.(?_5 36823)_(704826_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nssv15632505 | Remapped | Good | NT_187600.1:g.(?_5 36823)_(704826_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nssv15641731 | Remapped | Good | NT_187600.1:g.(?_5 36823)_(704826_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nssv15644745 | Remapped | Good | NT_187600.1:g.(?_5 36823)_(704826_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nssv15645709 | Remapped | Good | NT_187600.1:g.(?_5 36823)_(704826_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nssv15658020 | Remapped | Good | NT_187600.1:g.(?_5 36823)_(704826_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nssv15659322 | Remapped | Good | NT_187600.1:g.(?_5 36823)_(704826_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nssv15668622 | Remapped | Good | NT_187600.1:g.(?_5 36823)_(704826_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nssv15683894 | Remapped | Good | NT_187600.1:g.(?_5 36823)_(704826_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nssv15688310 | Remapped | Good | NT_187600.1:g.(?_5 36823)_(704826_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nssv15692314 | Remapped | Good | NT_187600.1:g.(?_5 36823)_(704826_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nssv15701270 | Remapped | Good | NT_187600.1:g.(?_5 36823)_(704826_?)d up | GRCh38.p12 | Second Pass | NT_187600.1 | Chr14|NT_1 87600.1 | 536,823 | 704,826 |
| nssv15616527 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062370 57_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nssv15626543 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062370 57_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nssv15632505 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062370 57_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nssv15641731 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062370 57_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nssv15644745 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062370 57_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nssv15645709 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062370 57_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nssv15658020 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062370 57_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nssv15659322 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062370 57_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nssv15668622 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062370 57_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nssv15683894 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062370 57_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nssv15688310 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062370 57_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nssv15692314 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062370 57_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nssv15701270 | Remapped | Good | NC_000014.9:g.(?_1 06069054)_(1062370 57_?)dup | GRCh38.p12 | First Pass | NC_000014.9 | Chr14 | 106,069,054 | 106,237,057 |
| nssv15616527 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1066936 70_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 | ||
| nssv15626543 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1066936 70_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 | ||
| nssv15632505 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1066936 70_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 | ||
| nssv15641731 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1066936 70_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 | ||
| nssv15644745 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1066936 70_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 | ||
| nssv15645709 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1066936 70_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 | ||
| nssv15658020 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1066936 70_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 | ||
| nssv15659322 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1066936 70_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 | ||
| nssv15668622 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1066936 70_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 | ||
| nssv15683894 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1066936 70_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 | ||
| nssv15688310 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1066936 70_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 | ||
| nssv15692314 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1066936 70_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 | ||
| nssv15701270 | Submitted genomic | NC_000014.8:g.(?_1 06525299)_(1066936 70_?)dup | GRCh37 (hg19) | NC_000014.8 | Chr14 | 106,525,299 | 106,693,670 |