nsv437618
- Organism: Homo sapiens
- Study:nstd17 (Conrad et al. 2005)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI34 (hg16)
- Variant Calls:1
- Validation:Yes
- Clinical Assertions: No
- Region Size:84,427
- Publication(s):Conrad et al. 2005
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: 1765 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1765 SVs from 90 studies. See in: genome view
Overlapping variant regions from other studies: 1 SVs from 1 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv437618 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000008.11 | Chr8 | 39,448,274 | 39,451,651 | 39,515,975 | 39,532,700 |
nsv437618 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000008.10 | Chr8 | 39,305,793 | 39,309,170 | 39,373,494 | 39,390,219 |
nsv437618 | Submitted genomic | NCBI34 (hg16) | Primary Assembly | NC_000008.8 | Chr8 | 39,323,161 | 39,326,538 | 39,390,862 | 39,407,587 |
Variant Call Information
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv467499 | Remapped | Perfect | NC_000008.11:g.(39 448274_39451651)_( 39515975_39532700) del | GRCh38.p12 | First Pass | NC_000008.11 | Chr8 | 39,448,274 | 39,451,651 | 39,515,975 | 39,532,700 |
nssv467499 | Remapped | Perfect | NC_000008.10:g.(39 305793_39309170)_( 39373494_39390219) del | GRCh37.p13 | First Pass | NC_000008.10 | Chr8 | 39,305,793 | 39,309,170 | 39,373,494 | 39,390,219 |
nssv467499 | Submitted genomic | NC_000008.8:g.(393 23161_39326538)_(3 9390862_39407587)d el | NCBI34 (hg16) | NC_000008.8 | Chr8 | 39,323,161 | 39,326,538 | 39,390,862 | 39,407,587 |
Validation Information
Variant Call ID | Experiment ID | Sample ID | Method | Analysis | Result |
---|---|---|---|---|---|
nssv467499 | 2 | NA18860 | Oligo aCGH | Probe signal intensity | Pass |