nsv4873320
- 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:1,358,770
- 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: 3225 SVs from 92 studies. See in: genome view
Overlapping variant regions from other studies: 3225 SVs from 92 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4873320 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000001.11 | Chr1 | 83,650,311 (+1) | 85,009,080 (-1, +1) |
nsv4873320 | Submitted genomic | GRCh37 (hg19) | Primary Assembly | NC_000001.10 | Chr1 | 84,115,994 (+1) | 85,474,763 (-1, +1) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16409611 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16409611 | Remapped | Perfect | NC_000001.11:g.(?_ 83650312)_(8500907 9_85009081)inv | GRCh38.p12 | First Pass | NC_000001.11 | Chr1 | 83,650,311 (+1) | 85,009,080 (-1, +1) |
nssv16409611 | Submitted genomic | NC_000001.10:g.(?_ 84115995)_(8547476 2_85474764)inv | GRCh37 (hg19) | NC_000001.10 | Chr1 | 84,115,994 (+1) | 85,474,763 (-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) |
---|---|---|---|
nssv16409611 | <0.001 | 1 | 16834 |