nsv4874980
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh37
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:121,174
- 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: 419 SVs from 54 studies. See in: genome view
Overlapping variant regions from other studies: 419 SVs from 54 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4874980 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000005.10 | Chr5 | 124,425,508 | 124,546,681 |
nsv4874980 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000005.9 | Chr5 | 123,761,201 | 123,882,374 |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16412054 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16412054 | Remapped | Perfect | NC_000005.10:g.124 425508_124546681in v | GRCh38.p12 | First Pass | NC_000005.10 | Chr5 | 124,425,508 | 124,546,681 |
nssv16412054 | Submitted genomic | NC_000005.9:g.1237 61201_123882374inv | GRCh37 (hg19) | NC_000005.9 | Chr5 | 123,761,201 | 123,882,374 |
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) |
---|---|---|---|
nssv16412054 | 0.021 | 350 | 16834 |