nsv5034096
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,600
- 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: 147 SVs from 52 studies. See in: genome view
Overlapping variant regions from other studies: 147 SVs from 52 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5034096 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000012.12 | Chr12 | 95,946,577 | 95,949,176 | ||
nsv5034096 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000012.11 | Chr12 | 96,340,355 | 96,342,954 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16540022 | sva deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16540022 | Submitted genomic | NC_000012.12:g.959 46577_95949176del | GRCh38 (hg38) | NC_000012.12 | Chr12 | 95,946,577 | 95,949,176 | ||
nssv16540022 | Remapped | Perfect | NC_000012.11:g.963 40355_96342954del | GRCh37.p13 | First Pass | NC_000012.11 | Chr12 | 96,340,355 | 96,342,954 |
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) |
---|---|---|---|
nssv16540022 | 0.659 | 19285 | 29246 |