nsv3418830
- Organism: Homo sapiens
- Study:nstd164 (Karolak et al. 2019)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,120,156
- Publication(s):Karolak 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: 5284 SVs from 100 studies. See in: genome view
Overlapping variant regions from other studies: 5284 SVs from 100 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv3418830 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 61,195,481 | 61,195,485 | 63,315,632 | 63,315,636 |
nsv3418830 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 59,272,842 | 59,272,846 | 61,392,993 | 61,392,997 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv14814882 | copy number loss | P035 | Oligo aCGH | Curated |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv14814882 | Remapped | Perfect | NC_000017.11:g.(61 195481_61195485)_( 63315632_63315636) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 61,195,481 | 61,195,485 | 63,315,632 | 63,315,636 |
nssv14814882 | Submitted genomic | NC_000017.10:g.(59 272842_59272846)_( 61392993_61392997) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 59,272,842 | 59,272,846 | 61,392,993 | 61,392,997 |