nsv4873654
- 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:672,991
- 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: 2254 SVs from 88 studies. See in: genome view
Overlapping variant regions from other studies: 2254 SVs from 88 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4873654 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000004.12 | Chr4 | 178,787,387 (-1, +1) | 179,460,377 (-9, +9) |
nsv4873654 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000004.11 | Chr4 | 179,708,541 (-1, +1) | 180,381,531 (-9, +9) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16411915 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16411915 | Remapped | Perfect | NC_000004.12:g.(17 8787386_178787388) _(179460368_179460 386)inv | GRCh38.p12 | First Pass | NC_000004.12 | Chr4 | 178,787,387 (-1, +1) | 179,460,377 (-9, +9) |
nssv16411915 | Submitted genomic | NC_000004.11:g.(17 9708540_179708542) _(180381522_180381 540)inv | GRCh37 (hg19) | NC_000004.11 | Chr4 | 179,708,541 (-1, +1) | 180,381,531 (-9, +9) |
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) |
---|---|---|---|
nssv16411915 | <0.001 | 2 | 16834 |