nsv4730251
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:12
- Validation:Not tested
- Clinical Assertions: No
- Region Size:6,470
- 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: 189 SVs from 50 studies. See in: genome view
Overlapping variant regions from other studies: 189 SVs from 50 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4730251 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000010.11 | Chr10 | 55,007,182 | 55,013,651 | ||
nsv4730251 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000010.10 | Chr10 | 56,766,942 | 56,773,411 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv16257741 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
nssv16258247 | inversion | HG00512 | Sequencing | Genotyping | Heterozygous | 328 |
nssv16256343 | inversion | HG00512 | Sequencing | Genotyping | Heterozygous | 328 |
nssv16255932 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
nssv16255999 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
nssv16257801 | inversion | HG00512 | Sequencing | Genotyping | Heterozygous | 328 |
nssv16257100 | inversion | HG00512 | Sequencing | Genotyping | Heterozygous | 328 |
nssv16257096 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
nssv16256409 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
nssv16257697 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
nssv16258145 | inversion | HG00514 | Sequencing | Genotyping | Homozygous | 338 |
nssv16256288 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16257741 | Submitted genomic | NC_000010.11:g.550 07182_55013651inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,007,182 | 55,013,651 | ||
nssv16258247 | Submitted genomic | NC_000010.11:g.550 07182_55013651inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,007,182 | 55,013,651 | ||
nssv16256343 | Submitted genomic | NC_000010.11:g.550 07329_55012883inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,007,329 | 55,012,883 | ||
nssv16255932 | Submitted genomic | NC_000010.11:g.550 07429_55013388inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,007,429 | 55,013,388 | ||
nssv16255999 | Submitted genomic | NC_000010.11:g.550 07429_55013388inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,007,429 | 55,013,388 | ||
nssv16257801 | Submitted genomic | NC_000010.11:g.550 07429_55013388inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,007,429 | 55,013,388 | ||
nssv16257100 | Submitted genomic | NC_000010.11:g.550 07524_55012811inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,007,524 | 55,012,811 | ||
nssv16257096 | Submitted genomic | NC_000010.11:g.550 07526_55013563inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,007,526 | 55,013,563 | ||
nssv16256409 | Submitted genomic | NC_000010.11:g.550 07563_55013187inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,007,563 | 55,013,187 | ||
nssv16257697 | Submitted genomic | NC_000010.11:g.550 07563_55013187inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,007,563 | 55,013,187 | ||
nssv16258145 | Submitted genomic | NC_000010.11:g.550 07563_55013187inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,007,563 | 55,013,187 | ||
nssv16256288 | Submitted genomic | NC_000010.11:g.550 07598_55013249inv | GRCh38 (hg38) | NC_000010.11 | Chr10 | 55,007,598 | 55,013,249 | ||
nssv16257741 | Remapped | Perfect | NC_000010.10:g.567 66942_56773411inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,766,942 | 56,773,411 |
nssv16258247 | Remapped | Perfect | NC_000010.10:g.567 66942_56773411inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,766,942 | 56,773,411 |
nssv16256343 | Remapped | Perfect | NC_000010.10:g.567 67089_56772643inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,767,089 | 56,772,643 |
nssv16255932 | Remapped | Perfect | NC_000010.10:g.567 67189_56773148inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,767,189 | 56,773,148 |
nssv16255999 | Remapped | Perfect | NC_000010.10:g.567 67189_56773148inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,767,189 | 56,773,148 |
nssv16257801 | Remapped | Perfect | NC_000010.10:g.567 67189_56773148inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,767,189 | 56,773,148 |
nssv16257100 | Remapped | Perfect | NC_000010.10:g.567 67284_56772571inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,767,284 | 56,772,571 |
nssv16257096 | Remapped | Perfect | NC_000010.10:g.567 67286_56773323inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,767,286 | 56,773,323 |
nssv16256409 | Remapped | Perfect | NC_000010.10:g.567 67323_56772947inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,767,323 | 56,772,947 |
nssv16257697 | Remapped | Perfect | NC_000010.10:g.567 67323_56772947inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,767,323 | 56,772,947 |
nssv16258145 | Remapped | Perfect | NC_000010.10:g.567 67323_56772947inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,767,323 | 56,772,947 |
nssv16256288 | Remapped | Perfect | NC_000010.10:g.567 67358_56773009inv | GRCh37.p13 | First Pass | NC_000010.10 | Chr10 | 56,767,358 | 56,773,009 |