nsv4730051
- 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:90,573
- 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: 474 SVs from 53 studies. See in: genome view
Overlapping variant regions from other studies: 40 SVs from 15 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730051 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000023.11 | ChrX | 63,159,232 | 63,249,804 | ||
| nsv4730051 | Remapped | Perfect | GRCh37.p13 | PATCHES | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 174,965 | 265,537 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16257849 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16257442 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
| nssv16257064 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16258369 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16258685 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
| nssv16257591 | inversion | SAMN00001695 | Sequencing | Genotyping | Hemizygous | 368 |
| nssv16258738 | inversion | SAMN00001695 | Sequencing | Genotyping | Hemizygous | 368 |
| nssv16257967 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16256291 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16256645 | inversion | SAMN00001695 | Sequencing | Genotyping | Hemizygous | 368 |
| nssv16257113 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16257254 | inversion | SAMN00001695 | Sequencing | Genotyping | Hemizygous | 368 |
| nssv16258200 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
| nssv16258246 | inversion | SAMN00001694 | Sequencing | Genotyping | Heterozygous | 340 |
| nssv16258333 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16258597 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16257849 | Submitted genomic | NC_000023.11:g.631 59232_63249804inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,159,232 | 63,249,804 | ||
| nssv16257442 | Submitted genomic | NC_000023.11:g.631 59293_63193104inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,159,293 | 63,193,104 | ||
| nssv16257064 | Submitted genomic | NC_000023.11:g.631 78945_63200001inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,178,945 | 63,200,001 | ||
| nssv16258369 | Submitted genomic | NC_000023.11:g.631 78945_63200001inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,178,945 | 63,200,001 | ||
| nssv16258685 | Submitted genomic | NC_000023.11:g.631 78945_63200001inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,178,945 | 63,200,001 | ||
| nssv16257591 | Submitted genomic | NC_000023.11:g.631 81080_63193538inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,181,080 | 63,193,538 | ||
| nssv16258738 | Submitted genomic | NC_000023.11:g.631 81080_63193538inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,181,080 | 63,193,538 | ||
| nssv16257967 | Submitted genomic | NC_000023.11:g.631 81217_63208812inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,181,217 | 63,208,812 | ||
| nssv16256291 | Submitted genomic | NC_000023.11:g.631 82029_63198950inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,182,029 | 63,198,950 | ||
| nssv16256645 | Submitted genomic | NC_000023.11:g.631 82029_63198950inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,182,029 | 63,198,950 | ||
| nssv16257113 | Submitted genomic | NC_000023.11:g.631 82029_63198950inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,182,029 | 63,198,950 | ||
| nssv16257254 | Submitted genomic | NC_000023.11:g.631 82029_63198950inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,182,029 | 63,198,950 | ||
| nssv16258200 | Submitted genomic | NC_000023.11:g.631 82029_63198950inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,182,029 | 63,198,950 | ||
| nssv16258246 | Submitted genomic | NC_000023.11:g.631 82029_63198950inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,182,029 | 63,198,950 | ||
| nssv16258333 | Submitted genomic | NC_000023.11:g.631 82029_63198950inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,182,029 | 63,198,950 | ||
| nssv16258597 | Submitted genomic | NC_000023.11:g.631 82029_63198950inv | GRCh38 (hg38) | NC_000023.11 | ChrX | 63,182,029 | 63,198,950 | ||
| nssv16257849 | Remapped | Perfect | NW_004070881.1:g.1 74965_265537inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 174,965 | 265,537 |
| nssv16257442 | Remapped | Perfect | NW_004070881.1:g.1 75026_208837inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 175,026 | 208,837 |
| nssv16257064 | Remapped | Perfect | NW_004070881.1:g.1 94678_215734inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 194,678 | 215,734 |
| nssv16258369 | Remapped | Perfect | NW_004070881.1:g.1 94678_215734inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 194,678 | 215,734 |
| nssv16258685 | Remapped | Perfect | NW_004070881.1:g.1 94678_215734inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 194,678 | 215,734 |
| nssv16257591 | Remapped | Perfect | NW_004070881.1:g.1 96813_209271inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 196,813 | 209,271 |
| nssv16258738 | Remapped | Perfect | NW_004070881.1:g.1 96813_209271inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 196,813 | 209,271 |
| nssv16257967 | Remapped | Perfect | NW_004070881.1:g.1 96950_224545inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 196,950 | 224,545 |
| nssv16256291 | Remapped | Perfect | NW_004070881.1:g.1 97762_214683inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 197,762 | 214,683 |
| nssv16256645 | Remapped | Perfect | NW_004070881.1:g.1 97762_214683inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 197,762 | 214,683 |
| nssv16257113 | Remapped | Perfect | NW_004070881.1:g.1 97762_214683inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 197,762 | 214,683 |
| nssv16257254 | Remapped | Perfect | NW_004070881.1:g.1 97762_214683inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 197,762 | 214,683 |
| nssv16258200 | Remapped | Perfect | NW_004070881.1:g.1 97762_214683inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 197,762 | 214,683 |
| nssv16258246 | Remapped | Perfect | NW_004070881.1:g.1 97762_214683inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 197,762 | 214,683 |
| nssv16258333 | Remapped | Perfect | NW_004070881.1:g.1 97762_214683inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 197,762 | 214,683 |
| nssv16258597 | Remapped | Perfect | NW_004070881.1:g.1 97762_214683inv | GRCh37.p13 | First Pass | NW_004070881.1 | ChrX|NW_00 4070881.1 | 197,762 | 214,683 |
| nssv16257064 | Remapped | Pass | NC_000023.10:g.623 98416_62413224inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,398,416 | 62,413,224 |
| nssv16258369 | Remapped | Pass | NC_000023.10:g.623 98416_62413224inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,398,416 | 62,413,224 |
| nssv16258685 | Remapped | Pass | NC_000023.10:g.623 98416_62413224inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,398,416 | 62,413,224 |
| nssv16256291 | Remapped | Pass | NC_000023.10:g.623 99467_62413224inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,399,467 | 62,413,224 |
| nssv16256645 | Remapped | Pass | NC_000023.10:g.623 99467_62413224inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,399,467 | 62,413,224 |
| nssv16257113 | Remapped | Pass | NC_000023.10:g.623 99467_62413224inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,399,467 | 62,413,224 |
| nssv16257254 | Remapped | Pass | NC_000023.10:g.623 99467_62413224inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,399,467 | 62,413,224 |
| nssv16258200 | Remapped | Pass | NC_000023.10:g.623 99467_62413224inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,399,467 | 62,413,224 |
| nssv16258246 | Remapped | Pass | NC_000023.10:g.623 99467_62413224inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,399,467 | 62,413,224 |
| nssv16258333 | Remapped | Pass | NC_000023.10:g.623 99467_62413224inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,399,467 | 62,413,224 |
| nssv16258597 | Remapped | Pass | NC_000023.10:g.623 99467_62413224inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,399,467 | 62,413,224 |
| nssv16257591 | Remapped | Pass | NC_000023.10:g.624 04879_62413224inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,404,879 | 62,413,224 |
| nssv16258738 | Remapped | Pass | NC_000023.10:g.624 04879_62413224inv | GRCh37.p13 | Second Pass | NC_000023.10 | ChrX | 62,404,879 | 62,413,224 |