nsv4787164
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:mobile element deletion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:1,075
- 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: 237 SVs from 39 studies. See in: genome view
Overlapping variant regions from other studies: 237 SVs from 39 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4787164 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000007.14 | Chr7 | 6,340,669 (-1, +1) | 6,341,743 (-1) |
nsv4787164 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000007.13 | Chr7 | 6,380,300 (-1, +1) | 6,381,374 (-1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16308400 | alu deletion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16308400 | Remapped | Perfect | NC_000007.14:g.(63 40668_6340670)_(63 41742_?)del | GRCh38.p12 | First Pass | NC_000007.14 | Chr7 | 6,340,669 (-1, +1) | 6,341,743 (-1) |
nssv16308400 | Submitted genomic | NC_000007.13:g.(63 80299_6380301)_(63 81373_?)del | GRCh37 (hg19) | NC_000007.13 | Chr7 | 6,380,300 (-1, +1) | 6,381,374 (-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) |
---|---|---|---|
nssv16308400 | <0.001 | 1 | 16834 |