nsv1160366
- Organism: Homo sapiens
- Study:nstd111 (Lou et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:2
- Validation:Not tested
- Clinical Assertions: No
- Region Size:123,600
- Publication(s):Lou et al. 2015
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: 430 SVs from 72 studies. See in: genome view
Overlapping variant regions from other studies: 430 SVs from 72 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv1160366 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000016.10 | Chr16 | 18,564,935 | 18,583,078 | 18,666,789 | 18,688,534 |
nsv1160366 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000016.9 | Chr16 | 18,576,257 | 18,594,400 | 18,678,111 | 18,699,856 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
nssv4038572 | deletion | SNP array | Probe signal intensity | 1 |
nssv4038573 | duplication | SNP array | Probe signal intensity | 4 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv4038572 | Remapped | Perfect | NC_000016.10:g.(18 564935_18583078)_( 18666789_18688534) del | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 18,564,935 | 18,583,078 | 18,666,789 | 18,688,534 |
nssv4038573 | Remapped | Perfect | NC_000016.10:g.(18 564935_18583078)_( 18666789_18688534) dup | GRCh38.p12 | First Pass | NC_000016.10 | Chr16 | 18,564,935 | 18,583,078 | 18,666,789 | 18,688,534 |
nssv4038572 | Submitted genomic | NC_000016.9:g.(185 76257_18594400)_(1 8678111_18699856)d el | GRCh37 (hg19) | NC_000016.9 | Chr16 | 18,576,257 | 18,594,400 | 18,678,111 | 18,699,856 | ||
nssv4038573 | Submitted genomic | NC_000016.9:g.(185 76257_18594400)_(1 8678111_18699856)d up | GRCh37 (hg19) | NC_000016.9 | Chr16 | 18,576,257 | 18,594,400 | 18,678,111 | 18,699,856 |