nsv947476
- Organism: Homo sapiens
- Study:nstd82 (Sudmant et al. 2013)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:NCBI36 (hg18)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,782
- Publication(s):Sudmant 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: 527 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 532 SVs from 46 studies. See in: genome view
Overlapping variant regions from other studies: 224 SVs from 14 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 |
---|---|---|---|---|---|---|---|---|---|
nsv947476 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 246,206,002 | 246,225,783 |
nsv947476 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000001.10 | Chr1 | 246,369,304 | 246,389,085 |
nsv947476 | Submitted genomic | NCBI36 (hg18) | Primary Assembly | NC_000001.9 | Chr1 | 244,435,927 | 244,455,708 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv2758650 | deletion | HGDP01284 | Sequencing | Read depth | 1 | 17,196 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
---|---|---|---|---|---|---|---|---|---|
nssv2758650 | Remapped | Perfect | NC_000001.11:g.(?_ 246206002)_(246225 783_?)del | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 246,206,002 | 246,225,783 |
nssv2758650 | Remapped | Perfect | NC_000001.10:g.(?_ 246369304)_(246389 085_?)del | GRCh37.p13 | First Pass | NC_000001.10 | Chr1 | 246,369,304 | 246,389,085 |
nssv2758650 | Submitted genomic | NC_000001.9:g.(?_2 44435927)_(2444557 08_?)del | NCBI36 (hg18) | NC_000001.9 | Chr1 | 244,435,927 | 244,455,708 |