nsv1160225
- Organism: Homo sapiens
- Study:nstd111 (Lou et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:5
- Validation:Not tested
- Clinical Assertions: No
- Region Size:65,012
- 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: 3834 SVs from 96 studies. See in: genome view
Overlapping variant regions from other studies: 3827 SVs from 96 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv1160225 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000015.10 | Chr15 | 20,376,311 | 20,380,735 | 20,422,239 | 20,441,322 |
nsv1160225 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000015.9 | Chr15 | 20,581,564 | 20,585,988 | 20,627,492 | 20,646,575 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
nssv4031912 | deletion | SNP array | Probe signal intensity | 1 |
nssv4031913 | duplication | SNP array | Probe signal intensity | 4 |
nssv4031914 | deletion | SNP array | Probe signal intensity | 1 |
nssv4031915 | deletion | SNP array | Probe signal intensity | 1 |
nssv4031916 | 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv4031912 | Remapped | Perfect | NC_000015.10:g.(20 376311_20380735)_( 20422239_20441322) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,376,311 | 20,380,735 | 20,422,239 | 20,441,322 |
nssv4031913 | Remapped | Perfect | NC_000015.10:g.(20 376311_20380735)_( 20422239_20441322) dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,376,311 | 20,380,735 | 20,422,239 | 20,441,322 |
nssv4031914 | Remapped | Perfect | NC_000015.10:g.(20 376311_20380735)_( 20422239_20441322) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,376,311 | 20,380,735 | 20,422,239 | 20,441,322 |
nssv4031915 | Remapped | Perfect | NC_000015.10:g.(20 376311_20380735)_( 20422239_20441322) del | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,376,311 | 20,380,735 | 20,422,239 | 20,441,322 |
nssv4031916 | Remapped | Perfect | NC_000015.10:g.(20 376311_20380735)_( 20422239_20441322) dup | GRCh38.p12 | First Pass | NC_000015.10 | Chr15 | 20,376,311 | 20,380,735 | 20,422,239 | 20,441,322 |
nssv4031912 | Submitted genomic | NC_000015.9:g.(205 81564_20585988)_(2 0627492_20646575)d el | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,581,564 | 20,585,988 | 20,627,492 | 20,646,575 | ||
nssv4031913 | Submitted genomic | NC_000015.9:g.(205 81564_20585988)_(2 0627492_20646575)d up | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,581,564 | 20,585,988 | 20,627,492 | 20,646,575 | ||
nssv4031914 | Submitted genomic | NC_000015.9:g.(205 81564_20585988)_(2 0627492_20646575)d el | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,581,564 | 20,585,988 | 20,627,492 | 20,646,575 | ||
nssv4031915 | Submitted genomic | NC_000015.9:g.(205 81564_20585988)_(2 0627492_20646575)d el | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,581,564 | 20,585,988 | 20,627,492 | 20,646,575 | ||
nssv4031916 | Submitted genomic | NC_000015.9:g.(205 81564_20585988)_(2 0627492_20646575)d up | GRCh37 (hg19) | NC_000015.9 | Chr15 | 20,581,564 | 20,585,988 | 20,627,492 | 20,646,575 |