nsv4449723
- Organism: Homo sapiens
- Study:nstd177 (Louzada et al. 2020)
- Variant Type:copy number variation
- Method Type:PCR
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:224,139
- Publication(s):Louzada et al. 2020
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: 1381 SVs from 94 studies. See in: genome view
Overlapping variant regions from other studies: 1381 SVs from 94 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 |
---|---|---|---|---|---|---|---|---|---|---|---|
nsv4449723 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 143,859,235 | 143,859,296 | 144,083,312 | 144,083,373 |
nsv4449723 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 144,780,388 | 144,780,449 | 145,004,465 | 145,004,526 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis |
---|---|---|---|---|
nssv15768591 | duplication | SAMN00001127 | PCR | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Outer Start | Inner Start | Inner Stop | Outer Stop |
---|---|---|---|---|---|---|---|---|---|---|---|
nssv15768591 | Remapped | Perfect | NC_000004.12:g.(14 3859235_143859296) _(144083312_144083 373)dup | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 143,859,235 | 143,859,296 | 144,083,312 | 144,083,373 |
nssv15768591 | Submitted genomic | NC_000004.11:g.(14 4780388_144780449) _(145004465_145004 526)dup | GRCh37 (hg19) | NC_000004.11 | Chr4 | 144,780,388 | 144,780,449 | 145,004,465 | 145,004,526 |