nsv4730080
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:13
- Validation:Not tested
- Clinical Assertions: No
- Region Size:19,505
- 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: 374 SVs from 68 studies. See in: genome view
Overlapping variant regions from other studies: 374 SVs from 68 studies. See in: genome view
Variant Region Placement Information
Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nsv4730080 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000011.10 | Chr11 | 48,880,467 | 48,899,971 | ||
nsv4730080 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000011.9 | Chr11 | 48,902,019 | 48,921,523 |
Variant Call Information
Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
---|---|---|---|---|---|---|
nssv16256321 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
nssv16256413 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
nssv16256572 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
nssv16257578 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
nssv16257795 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
nssv16258251 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
nssv16255964 | inversion | SAMN00001694 | Sequencing | Genotyping | Homozygous | 340 |
nssv16256655 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
nssv16256253 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
nssv16256557 | inversion | SAMN00001694 | Sequencing | Genotyping | Homozygous | 340 |
nssv16257575 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
nssv16256753 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
nssv16257996 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
Variant Call Placement Information
Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
---|---|---|---|---|---|---|---|---|---|
nssv16256321 | Submitted genomic | NC_000011.10:g.488 80467_48899971inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,880,467 | 48,899,971 | ||
nssv16256413 | Submitted genomic | NC_000011.10:g.488 80467_48899971inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,880,467 | 48,899,971 | ||
nssv16256572 | Submitted genomic | NC_000011.10:g.488 80467_48899971inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,880,467 | 48,899,971 | ||
nssv16257578 | Submitted genomic | NC_000011.10:g.488 80467_48899971inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,880,467 | 48,899,971 | ||
nssv16257795 | Submitted genomic | NC_000011.10:g.488 80467_48899971inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,880,467 | 48,899,971 | ||
nssv16258251 | Submitted genomic | NC_000011.10:g.488 80467_48899971inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,880,467 | 48,899,971 | ||
nssv16255964 | Submitted genomic | NC_000011.10:g.488 85343_48895095inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,885,343 | 48,895,095 | ||
nssv16256655 | Submitted genomic | NC_000011.10:g.488 85343_48895095inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,885,343 | 48,895,095 | ||
nssv16256253 | Submitted genomic | NC_000011.10:g.488 87934_48891379inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,887,934 | 48,891,379 | ||
nssv16256557 | Submitted genomic | NC_000011.10:g.488 88198_48891889inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,888,198 | 48,891,889 | ||
nssv16257575 | Submitted genomic | NC_000011.10:g.488 88658_48892199inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,888,658 | 48,892,199 | ||
nssv16256753 | Submitted genomic | NC_000011.10:g.488 88690_48891906inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,888,690 | 48,891,906 | ||
nssv16257996 | Submitted genomic | NC_000011.10:g.488 88690_48891906inv | GRCh38 (hg38) | NC_000011.10 | Chr11 | 48,888,690 | 48,891,906 | ||
nssv16256321 | Remapped | Perfect | NC_000011.9:g.4890 2019_48921523inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,902,019 | 48,921,523 |
nssv16256413 | Remapped | Perfect | NC_000011.9:g.4890 2019_48921523inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,902,019 | 48,921,523 |
nssv16256572 | Remapped | Perfect | NC_000011.9:g.4890 2019_48921523inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,902,019 | 48,921,523 |
nssv16257578 | Remapped | Perfect | NC_000011.9:g.4890 2019_48921523inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,902,019 | 48,921,523 |
nssv16257795 | Remapped | Perfect | NC_000011.9:g.4890 2019_48921523inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,902,019 | 48,921,523 |
nssv16258251 | Remapped | Perfect | NC_000011.9:g.4890 2019_48921523inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,902,019 | 48,921,523 |
nssv16255964 | Remapped | Perfect | NC_000011.9:g.4890 6895_48916647inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,906,895 | 48,916,647 |
nssv16256655 | Remapped | Perfect | NC_000011.9:g.4890 6895_48916647inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,906,895 | 48,916,647 |
nssv16256253 | Remapped | Perfect | NC_000011.9:g.4890 9486_48912931inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,909,486 | 48,912,931 |
nssv16256557 | Remapped | Perfect | NC_000011.9:g.4890 9750_48913441inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,909,750 | 48,913,441 |
nssv16257575 | Remapped | Perfect | NC_000011.9:g.4891 0210_48913751inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,910,210 | 48,913,751 |
nssv16256753 | Remapped | Perfect | NC_000011.9:g.4891 0242_48913458inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,910,242 | 48,913,458 |
nssv16257996 | Remapped | Perfect | NC_000011.9:g.4891 0242_48913458inv | GRCh37.p13 | First Pass | NC_000011.9 | Chr11 | 48,910,242 | 48,913,458 |