nsv4714044
- 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: 311 SVs from 35 studies. See in: genome view
Overlapping variant regions from other studies: 311 SVs from 35 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4714044 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 158,187,992 | 158,187,993 |
nsv4714044 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 157,980,684 | 157,980,685 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Copy number | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv16237733 | 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 |
---|---|---|---|---|---|---|---|---|---|
nssv16237733 | Remapped | Perfect | NC_000007.14:g.158 187992_158187993du p | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 158,187,992 | 158,187,993 |
nssv16237733 | Submitted genomic | NC_000007.13:g.157 980684_157980685du p | GRCh37 (hg19) | NC_000007.13 | Chr7 | 157,980,684 | 157,980,685 |