nsv4730177
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:8
- Validation:Not tested
- Clinical Assertions: No
- Region Size:9,844
- Publication(s):Hanlon et al. 2021
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: 183 SVs from 38 studies. See in: genome view
Overlapping variant regions from other studies: 183 SVs from 38 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4730177 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000003.12 | Chr3 | 131,968,695 | 131,978,538 | ||
nsv4730177 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000003.11 | Chr3 | 131,687,539 | 131,697,382 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv16256947 | inversion | HG00514 | Sequencing | Genotyping | Heterozygous | 338 |
nssv16256006 | inversion | HG00514 | Sequencing | Genotyping | Heterozygous | 338 |
nssv16256479 | inversion | HG00512 | Sequencing | Genotyping | Heterozygous | 328 |
nssv16257708 | inversion | HG00512 | Sequencing | Genotyping | Heterozygous | 328 |
nssv16258648 | inversion | HG00514 | Sequencing | Genotyping | Heterozygous | 338 |
nssv16257660 | inversion | HG00512 | Sequencing | Genotyping | Heterozygous | 328 |
nssv16257815 | inversion | HG00514 | Sequencing | Genotyping | Heterozygous | 338 |
nssv16257846 | inversion | HG00512 | Sequencing | Genotyping | Heterozygous | 328 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16256947 | Submitted genomic | NC_000003.12:g.131 968695_131978060in v | GRCh38 (hg38) | NC_000003.12 | Chr3 | 131,968,695 | 131,978,060 | ||
nssv16256006 | Submitted genomic | NC_000003.12:g.131 968697_131978538in v | GRCh38 (hg38) | NC_000003.12 | Chr3 | 131,968,697 | 131,978,538 | ||
nssv16256479 | Submitted genomic | NC_000003.12:g.131 968697_131978538in v | GRCh38 (hg38) | NC_000003.12 | Chr3 | 131,968,697 | 131,978,538 | ||
nssv16257708 | Submitted genomic | NC_000003.12:g.131 968697_131978538in v | GRCh38 (hg38) | NC_000003.12 | Chr3 | 131,968,697 | 131,978,538 | ||
nssv16258648 | Submitted genomic | NC_000003.12:g.131 968697_131978538in v | GRCh38 (hg38) | NC_000003.12 | Chr3 | 131,968,697 | 131,978,538 | ||
nssv16257660 | Submitted genomic | NC_000003.12:g.131 969241_131978043in v | GRCh38 (hg38) | NC_000003.12 | Chr3 | 131,969,241 | 131,978,043 | ||
nssv16257815 | Submitted genomic | NC_000003.12:g.131 969241_131978043in v | GRCh38 (hg38) | NC_000003.12 | Chr3 | 131,969,241 | 131,978,043 | ||
nssv16257846 | Submitted genomic | NC_000003.12:g.131 969886_131977466in v | GRCh38 (hg38) | NC_000003.12 | Chr3 | 131,969,886 | 131,977,466 | ||
nssv16256947 | Remapped | Perfect | NC_000003.11:g.131 687539_131696904in v | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 131,687,539 | 131,696,904 |
nssv16256006 | Remapped | Perfect | NC_000003.11:g.131 687541_131697382in v | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 131,687,541 | 131,697,382 |
nssv16256479 | Remapped | Perfect | NC_000003.11:g.131 687541_131697382in v | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 131,687,541 | 131,697,382 |
nssv16257708 | Remapped | Perfect | NC_000003.11:g.131 687541_131697382in v | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 131,687,541 | 131,697,382 |
nssv16258648 | Remapped | Perfect | NC_000003.11:g.131 687541_131697382in v | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 131,687,541 | 131,697,382 |
nssv16257660 | Remapped | Perfect | NC_000003.11:g.131 688085_131696887in v | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 131,688,085 | 131,696,887 |
nssv16257815 | Remapped | Perfect | NC_000003.11:g.131 688085_131696887in v | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 131,688,085 | 131,696,887 |
nssv16257846 | Remapped | Perfect | NC_000003.11:g.131 688730_131696310in v | GRCh37.p13 | First Pass | NC_000003.11 | Chr3 | 131,688,730 | 131,696,310 |