nsv4730068
- Organism: Homo sapiens
- Study:nstd198 (Hanlon et al. 2021)
- Variant Type:inversion
- Method Type:Sequencing
- Submitted on:GRCh38
- Variant Calls:20
- Validation:Not tested
- Clinical Assertions: No
- Region Size:466,052
- 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: 1866 SVs from 102 studies. See in: genome view
Overlapping variant regions from other studies: 1866 SVs from 102 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv4730068 | Submitted genomic | GRCh38 (hg38) | Primary Assembly | NC_000017.11 | Chr17 | 18,409,166 | 18,875,217 | ||
| nsv4730068 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000017.10 | Chr17 | 18,312,480 | 18,778,530 |
Variant Call Information
| Variant Call ID | Type | Sample ID | Method | Analysis | Zygosity | Other Calls in this Sample and Study |
|---|---|---|---|---|---|---|
| nssv16256148 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16256304 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16256116 | inversion | SAMN00006579 | Sequencing | Genotyping | Homozygous | 303 |
| nssv16256200 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16256278 | inversion | SAMN00006579 | Sequencing | Genotyping | Homozygous | 303 |
| nssv16256610 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16256797 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16257278 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16256356 | inversion | SAMN00006581 | Sequencing | Genotyping | Heterozygous | 348 |
| nssv16256316 | inversion | SAMN00006466 | Sequencing | Genotyping | Heterozygous | 335 |
| nssv16257167 | inversion | SAMN00006579 | Sequencing | Genotyping | Homozygous | 303 |
| nssv16257900 | inversion | SAMN00006579 | Sequencing | Genotyping | Homozygous | 303 |
| nssv16256254 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
| nssv16256110 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
| nssv16256328 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
| nssv16256994 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
| nssv16257522 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
| nssv16258582 | inversion | SAMN00001695 | Sequencing | Genotyping | Heterozygous | 368 |
| nssv16258584 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
| nssv16256805 | inversion | SAMN00001696 | Sequencing | Genotyping | Heterozygous | 349 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Start | Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv16256148 | Submitted genomic | NC_000017.11:g.184 09166_18512829inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,409,166 | 18,512,829 | ||
| nssv16256304 | Submitted genomic | NC_000017.11:g.184 09166_18512829inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,409,166 | 18,512,829 | ||
| nssv16256116 | Submitted genomic | NC_000017.11:g.184 23506_18512829inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,423,506 | 18,512,829 | ||
| nssv16256200 | Submitted genomic | NC_000017.11:g.184 23506_18512829inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,423,506 | 18,512,829 | ||
| nssv16256278 | Submitted genomic | NC_000017.11:g.184 23506_18512829inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,423,506 | 18,512,829 | ||
| nssv16256610 | Submitted genomic | NC_000017.11:g.184 23506_18512829inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,423,506 | 18,512,829 | ||
| nssv16256797 | Submitted genomic | NC_000017.11:g.184 23506_18512829inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,423,506 | 18,512,829 | ||
| nssv16257278 | Submitted genomic | NC_000017.11:g.184 23506_18512829inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,423,506 | 18,512,829 | ||
| nssv16256356 | Submitted genomic | NC_000017.11:g.184 24181_18561537inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,424,181 | 18,561,537 | ||
| nssv16256316 | Submitted genomic | NC_000017.11:g.184 25760_18561051inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,425,760 | 18,561,051 | ||
| nssv16257167 | Submitted genomic | NC_000017.11:g.184 26930_18557895inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,426,930 | 18,557,895 | ||
| nssv16257900 | Submitted genomic | NC_000017.11:g.184 26930_18557895inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,426,930 | 18,557,895 | ||
| nssv16256254 | Submitted genomic | NC_000017.11:g.185 38710_18875217inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,538,710 | 18,875,217 | ||
| nssv16256110 | Submitted genomic | NC_000017.11:g.186 04118_18840761inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,604,118 | 18,840,761 | ||
| nssv16256328 | Submitted genomic | NC_000017.11:g.186 05263_18835011inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,605,263 | 18,835,011 | ||
| nssv16256994 | Submitted genomic | NC_000017.11:g.186 07041_18827456inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,607,041 | 18,827,456 | ||
| nssv16257522 | Submitted genomic | NC_000017.11:g.186 07041_18827456inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,607,041 | 18,827,456 | ||
| nssv16258582 | Submitted genomic | NC_000017.11:g.186 07041_18827456inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,607,041 | 18,827,456 | ||
| nssv16258584 | Submitted genomic | NC_000017.11:g.186 07041_18827456inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,607,041 | 18,827,456 | ||
| nssv16256805 | Submitted genomic | NC_000017.11:g.186 07812_18875217inv | GRCh38 (hg38) | NC_000017.11 | Chr17 | 18,607,812 | 18,875,217 | ||
| nssv16256148 | Remapped | Perfect | NC_000017.10:g.183 12480_18416143inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,312,480 | 18,416,143 |
| nssv16256304 | Remapped | Perfect | NC_000017.10:g.183 12480_18416143inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,312,480 | 18,416,143 |
| nssv16256116 | Remapped | Perfect | NC_000017.10:g.183 26820_18416143inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,326,820 | 18,416,143 |
| nssv16256200 | Remapped | Perfect | NC_000017.10:g.183 26820_18416143inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,326,820 | 18,416,143 |
| nssv16256278 | Remapped | Perfect | NC_000017.10:g.183 26820_18416143inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,326,820 | 18,416,143 |
| nssv16256610 | Remapped | Perfect | NC_000017.10:g.183 26820_18416143inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,326,820 | 18,416,143 |
| nssv16256797 | Remapped | Perfect | NC_000017.10:g.183 26820_18416143inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,326,820 | 18,416,143 |
| nssv16257278 | Remapped | Perfect | NC_000017.10:g.183 26820_18416143inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,326,820 | 18,416,143 |
| nssv16256356 | Remapped | Perfect | NC_000017.10:g.183 27495_18464851inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,327,495 | 18,464,851 |
| nssv16256316 | Remapped | Perfect | NC_000017.10:g.183 29074_18464365inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,329,074 | 18,464,365 |
| nssv16257167 | Remapped | Perfect | NC_000017.10:g.183 30244_18461209inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,330,244 | 18,461,209 |
| nssv16257900 | Remapped | Perfect | NC_000017.10:g.183 30244_18461209inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,330,244 | 18,461,209 |
| nssv16256254 | Remapped | Perfect | NC_000017.10:g.184 42024_18778530inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,442,024 | 18,778,530 |
| nssv16256110 | Remapped | Perfect | NC_000017.10:g.185 07431_18744074inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,507,431 | 18,744,074 |
| nssv16256328 | Remapped | Perfect | NC_000017.10:g.185 08576_18738324inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,508,576 | 18,738,324 |
| nssv16256994 | Remapped | Perfect | NC_000017.10:g.185 10354_18730769inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,510,354 | 18,730,769 |
| nssv16257522 | Remapped | Perfect | NC_000017.10:g.185 10354_18730769inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,510,354 | 18,730,769 |
| nssv16258582 | Remapped | Perfect | NC_000017.10:g.185 10354_18730769inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,510,354 | 18,730,769 |
| nssv16258584 | Remapped | Perfect | NC_000017.10:g.185 10354_18730769inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,510,354 | 18,730,769 |
| nssv16256805 | Remapped | Perfect | NC_000017.10:g.185 11125_18778530inv | GRCh37.p13 | First Pass | NC_000017.10 | Chr17 | 18,511,125 | 18,778,530 |