nsv4972142
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:copy number variation
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,045
- Publication(s):Abel 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: 148 SVs from 28 studies. See in: genome view
Overlapping variant regions from other studies: 148 SVs from 28 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4972142 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 9,058,328 (-1, +1) | 9,059,372 (-1, +1) | ||
nsv4972142 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 9,210,924 (-1, +1) | 9,211,968 (-1, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16530099 | deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16530099 | Submitted genomic | NC_000012.12:g.(90 58327_9058329)_(90 59371_9059373)del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 9,058,328 (-1, +1) | 9,059,372 (-1, +1) | ||
nssv16530099 | Remapped | Perfect | NC_000012.11:g.(92 10923_9210925)_(92 11967_9211969)del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 9,210,924 (-1, +1) | 9,211,968 (-1, +1) |
No validation data were submitted for this variant
No clinical assertion data were submitted for this variant
Genotype Information
Variant Call ID | Allele Frequency (AF) | Allele Count (AC) | Allele Number (AN) |
---|---|---|---|
nssv16530099 | <0.001 | 1 | 29246 |