nsv3418822
- Organism: Homo sapiens
- Study:nstd164 (Karolak et al. 2019)
- Variant Type:copy number variation
- Method Type:Oligo aCGH
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,257,096
- 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: 5876 SVs from 101 studies. See in: genome view
Overlapping variant regions from other studies: 5876 SVs from 101 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nsv3418822 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000017.11 | Chr17 | 60,011,572 | 60,012,092 | 62,268,147 | 62,268,667 |
| nsv3418822 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000017.10 | Chr17 | 58,088,933 | 58,089,453 | 60,345,508 | 60,346,028 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis |
|---|---|---|---|---|
| nssv14814878 | copy number loss | P012 | Oligo aCGH | Curated |
| nssv14814880 | copy number loss | P026 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|
| nssv14814878 | Remapped | Perfect | NC_000017.11:g.(60 011572_60012092)_( 62268147_62268667) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 60,011,572 | 60,012,092 | 62,268,147 | 62,268,667 |
| nssv14814880 | Remapped | Perfect | NC_000017.11:g.(60 011572_60012092)_( 62268147_62268667) del | GRCh38.p12 | First Pass | NC_000017.11 | Chr17 | 60,011,572 | 60,012,092 | 62,268,147 | 62,268,667 |
| nssv14814878 | Submitted genomic | NC_000017.10:g.(58 088933_58089453)_( 60345508_60346028) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 58,088,933 | 58,089,453 | 60,345,508 | 60,346,028 | ||
| nssv14814880 | Submitted genomic | NC_000017.10:g.(58 088933_58089453)_( 60345508_60346028) del | GRCh37 (hg19) | NC_000017.10 | Chr17 | 58,088,933 | 58,089,453 | 60,345,508 | 60,346,028 |