nsv959617
- Organism: Homo sapiens
- Study:nstd86 (Poultney et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:308,003
- Publication(s):Poultney et al. 2013
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: 700 SVs from 61 studies. See in: genome view
Overlapping variant regions from other studies: 443 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 700 SVs from 61 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 |
|---|---|---|---|---|---|---|---|---|---|
| nsv959617 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000006.12 | Chr6 | 128,089,688 | 128,397,690 |
| nsv959617 | Remapped | Perfect | GRCh38.p12 | ALT_REF_LOCI_1 | Second Pass | NT_187556.1 | Chr6|NT_18 7556.1 | 439,022 | 747,024 |
| nsv959617 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000006.11 | Chr6 | 128,410,833 | 128,718,835 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis |
|---|---|---|---|
| nssv3020766 | deletion | Sequencing | Read depth |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv3020766 | Remapped | Perfect | NT_187556.1:g.(433 160_439022)_(74702 4_841066)del | GRCh38.p12 | Second Pass | NT_187556.1 | Chr6|NT_18 7556.1 | 433,160 | 439,022 | 747,024 | 841,066 |
| nssv3020766 | Remapped | Perfect | NC_000006.12:g.(12 8083826_128089688) _(128397690_128491 732)del | GRCh38.p12 | First Pass | NC_000006.12 | Chr6 | 128,083,826 | 128,089,688 | 128,397,690 | 128,491,732 |
| nssv3020766 | Submitted genomic | NC_000006.11:g.(12 8404971_128410833) _(128718835_128812 877)del | GRCh37 (hg19) | NC_000006.11 | Chr6 | 128,404,971 | 128,410,833 | 128,718,835 | 128,812,877 |