nsv4714321
- Organism: Homo sapiens
- Study:nstd195 (Mwapagha et al. 2021)
- Variant Type:tandem duplication
- Method Type:Sequencing
- Submitted on:GRCh37 (hg19)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2
- Publication(s):Mwapagha et al. 2021
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: 181 SVs from 16 studies. See in: genome view
Overlapping variant regions from other studies: 180 SVs from 16 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4714321 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 156,008,859 | 156,008,860 |
nsv4714321 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000023.10 | ChrX | 155,238,524 | 155,238,525 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv16238961 | tandem duplication | M456 | Sequencing | Paired-end mapping | 1 | 4,735 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16238961 | Remapped | Perfect | NC_000023.11:g.156 008859_156008860du p | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 156,008,859 | 156,008,860 |
nssv16238961 | Submitted genomic | NC_000023.10:g.155 238524_155238525du p | GRCh37 (hg19) | NC_000023.10 | ChrX | 155,238,524 | 155,238,525 |