nsv4730160
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:16
- Validation:Not tested
- Clinical Assertions: No
- Region Size:2,904
- 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: 145 SVs from 41 studies. See in: genome view
Overlapping variant regions from other studies: 145 SVs from 41 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730160 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000004.12 | Chr4 | 40,233,251 | 40,236,154 | ||
| nsv4730160 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000004.11 | Chr4 | 40,234,871 | 40,237,774 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16256178 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16258472 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16258421 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16255864 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16257181 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16257961 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16256899 | inversion | SAMN00006579 | Sequencing | Genotyping | Heterozygous | 303 |
| nssv16256724 | inversion | SAMN00006579 | Sequencing | Genotyping | Heterozygous | 303 |
| nssv16257894 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
| nssv16256554 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
| nssv16257629 | inversion | SAMN00006579 | Sequencing | Genotyping | Heterozygous | 303 |
| nssv16255845 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
| nssv16258017 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
| nssv16258549 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
| nssv16258805 | inversion | SAMN00001695 | Sequencing | Genotyping | Homozygous | 368 |
| nssv16256826 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16256178 | Submitted genomic | NC_000004.12:g.402 33251_40235411inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,251 | 40,235,411 | ||
| nssv16258472 | Submitted genomic | NC_000004.12:g.402 33251_40235411inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,251 | 40,235,411 | ||
| nssv16258421 | Submitted genomic | NC_000004.12:g.402 33251_40235440inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,251 | 40,235,440 | ||
| nssv16255864 | Submitted genomic | NC_000004.12:g.402 33334_40235450inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,334 | 40,235,450 | ||
| nssv16257181 | Submitted genomic | NC_000004.12:g.402 33334_40235450inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,334 | 40,235,450 | ||
| nssv16257961 | Submitted genomic | NC_000004.12:g.402 33334_40235450inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,334 | 40,235,450 | ||
| nssv16256899 | Submitted genomic | NC_000004.12:g.402 33340_40235356inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,340 | 40,235,356 | ||
| nssv16256724 | Submitted genomic | NC_000004.12:g.402 33406_40235440inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,406 | 40,235,440 | ||
| nssv16257894 | Submitted genomic | NC_000004.12:g.402 33406_40235734inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,406 | 40,235,734 | ||
| nssv16256554 | Submitted genomic | NC_000004.12:g.402 33406_40236154inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,406 | 40,236,154 | ||
| nssv16257629 | Submitted genomic | NC_000004.12:g.402 33406_40236154inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,406 | 40,236,154 | ||
| nssv16255845 | Submitted genomic | NC_000004.12:g.402 33407_40235380inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,407 | 40,235,380 | ||
| nssv16258017 | Submitted genomic | NC_000004.12:g.402 33407_40235380inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,407 | 40,235,380 | ||
| nssv16258549 | Submitted genomic | NC_000004.12:g.402 33407_40235380inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,407 | 40,235,380 | ||
| nssv16258805 | Submitted genomic | NC_000004.12:g.402 33407_40235380inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,407 | 40,235,380 | ||
| nssv16256826 | Submitted genomic | NC_000004.12:g.402 33986_40234902inv | GRCh38 (hg38) | NC_000004.12 | Chr4 | 40,233,986 | 40,234,902 | ||
| nssv16256178 | Remapped | Perfect | NC_000004.11:g.402 34871_40237031inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,234,871 | 40,237,031 |
| nssv16258472 | Remapped | Perfect | NC_000004.11:g.402 34871_40237031inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,234,871 | 40,237,031 |
| nssv16258421 | Remapped | Perfect | NC_000004.11:g.402 34871_40237060inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,234,871 | 40,237,060 |
| nssv16255864 | Remapped | Perfect | NC_000004.11:g.402 34954_40237070inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,234,954 | 40,237,070 |
| nssv16257181 | Remapped | Perfect | NC_000004.11:g.402 34954_40237070inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,234,954 | 40,237,070 |
| nssv16257961 | Remapped | Perfect | NC_000004.11:g.402 34954_40237070inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,234,954 | 40,237,070 |
| nssv16256899 | Remapped | Perfect | NC_000004.11:g.402 34960_40236976inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,234,960 | 40,236,976 |
| nssv16256724 | Remapped | Perfect | NC_000004.11:g.402 35026_40237060inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,235,026 | 40,237,060 |
| nssv16257894 | Remapped | Perfect | NC_000004.11:g.402 35026_40237354inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,235,026 | 40,237,354 |
| nssv16256554 | Remapped | Perfect | NC_000004.11:g.402 35026_40237774inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,235,026 | 40,237,774 |
| nssv16257629 | Remapped | Perfect | NC_000004.11:g.402 35026_40237774inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,235,026 | 40,237,774 |
| nssv16255845 | Remapped | Perfect | NC_000004.11:g.402 35027_40237000inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,235,027 | 40,237,000 |
| nssv16258017 | Remapped | Perfect | NC_000004.11:g.402 35027_40237000inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,235,027 | 40,237,000 |
| nssv16258549 | Remapped | Perfect | NC_000004.11:g.402 35027_40237000inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,235,027 | 40,237,000 |
| nssv16258805 | Remapped | Perfect | NC_000004.11:g.402 35027_40237000inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,235,027 | 40,237,000 |
| nssv16256826 | Remapped | Perfect | NC_000004.11:g.402 35606_40236522inv | GRCh37.p13 | First Pass | NC_000004.11 | Chr4 | 40,235,606 | 40,236,522 |