nsv5037756
- Organism: Homo sapiens
- Study:nstd200 (Abel et al. 2020)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,133,062
- 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: 6358 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 6359 SVs from 117 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv5037756 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000015.10 | Chr15 | 75,735,818 (-6, +6) | 77,868,879 (-3, +3) | ||
nsv5037756 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000015.9 | Chr15 | 76,028,159 (-6, +6) | 78,161,221 (-3, +3) |
Variant Call Information
Variant Call ID | Type | Method | Analysis |
---|---|---|---|
nssv16555497 | inversion | Sequencing | Sequence alignment |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16555497 | Submitted genomic | NC_000015.10:g.(75 735812_75735824)_( 77868876_77868882) inv | GRCh38 (hg38) | NC_000015.10 | Chr15 | 75,735,818 (-6, +6) | 77,868,879 (-3, +3) | ||
nssv16555497 | Remapped | Perfect | NC_000015.9:g.(760 28153_76028165)_(7 8161218_78161224)i nv | GRCh37.p13 | First Pass | NC_000015.9 | Chr15 | 76,028,159 (-6, +6) | 78,161,221 (-3, +3) |
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) |
---|---|---|---|
nssv16555497 | 0.212 | 6204 | 29246 |