nsv1161063
- Organism: Homo sapiens
- Study:nstd111 (Lou et al. 2015)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:GRCh37 (hg19)
- Variant Calls:7
- Validation:Not tested
- Clinical Assertions: No
- Region Size:15,048
- 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: 347 SVs from 71 studies. See in: genome view
Overlapping variant regions from other studies: 347 SVs from 71 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv1161063 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 21,367,070 | 21,370,380 | 21,375,228 | 21,382,117 |
nsv1161063 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 21,368,693 | 21,372,003 | 21,376,851 | 21,383,740 |
Variant Call Information
Variant Call ID | Type | Method | Analysis | Copy number |
---|---|---|---|---|
nssv4028760 | deletion | SNP array | Probe signal intensity | 1 |
nssv4028761 | deletion | SNP array | Probe signal intensity | 1 |
nssv4028762 | deletion | SNP array | Probe signal intensity | 1 |
nssv4028763 | duplication | SNP array | Probe signal intensity | 4 |
nssv4028764 | duplication | SNP array | Probe signal intensity | 4 |
nssv4028765 | duplication | SNP array | Probe signal intensity | 3 |
nssv4028766 | deletion | SNP array | Probe signal intensity | 1 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv4028760 | Remapped | Perfect | NC_000004.12:g.(21 367070_21370380)_( 21375228_21382117) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 21,367,070 | 21,370,380 | 21,375,228 | 21,382,117 |
nssv4028761 | Remapped | Perfect | NC_000004.12:g.(21 367070_21370380)_( 21375228_21382117) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 21,367,070 | 21,370,380 | 21,375,228 | 21,382,117 |
nssv4028762 | Remapped | Perfect | NC_000004.12:g.(21 367070_21370380)_( 21375228_21382117) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 21,367,070 | 21,370,380 | 21,375,228 | 21,382,117 |
nssv4028763 | Remapped | Perfect | NC_000004.12:g.(21 367070_21370380)_( 21375228_21382117) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 21,367,070 | 21,370,380 | 21,375,228 | 21,382,117 |
nssv4028764 | Remapped | Perfect | NC_000004.12:g.(21 367070_21370380)_( 21375228_21382117) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 21,367,070 | 21,370,380 | 21,375,228 | 21,382,117 |
nssv4028765 | Remapped | Perfect | NC_000004.12:g.(21 367070_21370380)_( 21375228_21382117) dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 21,367,070 | 21,370,380 | 21,375,228 | 21,382,117 |
nssv4028766 | Remapped | Perfect | NC_000004.12:g.(21 367070_21370380)_( 21375228_21382117) del | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 21,367,070 | 21,370,380 | 21,375,228 | 21,382,117 |
nssv4028760 | Submitted genomic | NC_000004.11:g.(21 368693_21372003)_( 21376851_21383740) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 21,368,693 | 21,372,003 | 21,376,851 | 21,383,740 | ||
nssv4028761 | Submitted genomic | NC_000004.11:g.(21 368693_21372003)_( 21376851_21383740) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 21,368,693 | 21,372,003 | 21,376,851 | 21,383,740 | ||
nssv4028762 | Submitted genomic | NC_000004.11:g.(21 368693_21372003)_( 21376851_21383740) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 21,368,693 | 21,372,003 | 21,376,851 | 21,383,740 | ||
nssv4028763 | Submitted genomic | NC_000004.11:g.(21 368693_21372003)_( 21376851_21383740) dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 21,368,693 | 21,372,003 | 21,376,851 | 21,383,740 | ||
nssv4028764 | Submitted genomic | NC_000004.11:g.(21 368693_21372003)_( 21376851_21383740) dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 21,368,693 | 21,372,003 | 21,376,851 | 21,383,740 | ||
nssv4028765 | Submitted genomic | NC_000004.11:g.(21 368693_21372003)_( 21376851_21383740) dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 21,368,693 | 21,372,003 | 21,376,851 | 21,383,740 | ||
nssv4028766 | Submitted genomic | NC_000004.11:g.(21 368693_21372003)_( 21376851_21383740) del | GRCh37 (hg19) | NC_000004.11 | Chr4 | 21,368,693 | 21,372,003 | 21,376,851 | 21,383,740 |