nsv4730256
- 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:2,993,714
- 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: 8707 SVs from 117 studies. See in: genome view
Overlapping variant regions from other studies: 4302 SVs from 64 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730256 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000007.14 | Chr7 | 72,909,603 | 75,903,316 | ||
| nsv4730256 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 438,839 | 3,432,552 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16256354 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
| nssv16257651 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16258856 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16255994 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
| nssv16258319 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16258837 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16256358 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16256537 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
| nssv16256048 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16257804 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16258312 | inversion | SAMN00006580 | Sequencing | Genotyping | Heterozygous | 344 |
| nssv16257151 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16256354 | Submitted genomic | NC_000007.14:g.729 09603_75437612inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 72,909,603 | 75,437,612 | ||
| nssv16257651 | Submitted genomic | NC_000007.14:g.729 09603_75437612inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 72,909,603 | 75,437,612 | ||
| nssv16258856 | Submitted genomic | NC_000007.14:g.729 09603_75437612inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 72,909,603 | 75,437,612 | ||
| nssv16255994 | Submitted genomic | NC_000007.14:g.729 49859_75422553inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 72,949,859 | 75,422,553 | ||
| nssv16258319 | Submitted genomic | NC_000007.14:g.729 49859_75422553inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 72,949,859 | 75,422,553 | ||
| nssv16258837 | Submitted genomic | NC_000007.14:g.729 49859_75422553inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 72,949,859 | 75,422,553 | ||
| nssv16256358 | Submitted genomic | NC_000007.14:g.729 63121_75391275inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 72,963,121 | 75,391,275 | ||
| nssv16256537 | Submitted genomic | NC_000007.14:g.729 74689_75391272inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 72,974,689 | 75,391,272 | ||
| nssv16256048 | Submitted genomic | NC_000007.14:g.729 76532_75415215inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 72,976,532 | 75,415,215 | ||
| nssv16257804 | Submitted genomic | NC_000007.14:g.729 76532_75415215inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 72,976,532 | 75,415,215 | ||
| nssv16258312 | Submitted genomic | NC_000007.14:g.729 76532_75415215inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 72,976,532 | 75,415,215 | ||
| nssv16257151 | Submitted genomic | NC_000007.14:g.730 38728_75903316inv | GRCh38 (hg38) | NC_000007.14 | Chr7 | 73,038,728 | 75,903,316 | ||
| nssv16256354 | Remapped | Perfect | NW_003871064.1:g.4 38839_2966848inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 438,839 | 2,966,848 |
| nssv16257651 | Remapped | Perfect | NW_003871064.1:g.4 38839_2966848inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 438,839 | 2,966,848 |
| nssv16258856 | Remapped | Perfect | NW_003871064.1:g.4 38839_2966848inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 438,839 | 2,966,848 |
| nssv16255994 | Remapped | Perfect | NW_003871064.1:g.4 79095_2951789inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 479,095 | 2,951,789 |
| nssv16258319 | Remapped | Perfect | NW_003871064.1:g.4 79095_2951789inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 479,095 | 2,951,789 |
| nssv16258837 | Remapped | Perfect | NW_003871064.1:g.4 79095_2951789inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 479,095 | 2,951,789 |
| nssv16256358 | Remapped | Perfect | NW_003871064.1:g.4 92357_2920511inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 492,357 | 2,920,511 |
| nssv16256537 | Remapped | Perfect | NW_003871064.1:g.5 03925_2920508inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 503,925 | 2,920,508 |
| nssv16256048 | Remapped | Perfect | NW_003871064.1:g.5 05768_2944451inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 505,768 | 2,944,451 |
| nssv16257804 | Remapped | Perfect | NW_003871064.1:g.5 05768_2944451inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 505,768 | 2,944,451 |
| nssv16258312 | Remapped | Perfect | NW_003871064.1:g.5 05768_2944451inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 505,768 | 2,944,451 |
| nssv16257151 | Remapped | Perfect | NW_003871064.1:g.5 67964_3432552inv | GRCh37.p13 | First Pass | NW_003871064.1 | Chr7|NW_00 3871064.1 | 567,964 | 3,432,552 |