nsv4730252

Organism: Homo sapiens

Study:nstd198 (Hanlon et al. 2021)
Variant Type:inversion
Method Type:Sequencing
Submitted on:GRCh38

Variant Calls:23
Validation:Not tested
Clinical Assertions: No
Region Size:8,778

Publication(s):Hanlon et al. 2021

Links to Other Resources

Overlapping Genes

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: 312 SVs from 36 studies. See in: genome view

Submitted genomic12,141,461-12,150,238

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4730252	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000018.10	Chr18	12,141,461	12,150,238
nsv4730252	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000018.9	Chr18	12,141,460	12,150,237

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv16257152	inversion	HG00512	Sequencing	Genotyping	Heterozygous	328
nssv16257690	inversion	HG00512	Sequencing	Genotyping	Heterozygous	328
nssv16258723	inversion	SAMN00001696	Sequencing	Genotyping	Heterozygous	349
nssv16257069	inversion	SAMN00001696	Sequencing	Genotyping	Heterozygous	349
nssv16258447	inversion	SAMN00001695	Sequencing	Genotyping	Homozygous	368
nssv16257045	inversion	HG00514	Sequencing	Genotyping	Homozygous	338
nssv16257122	inversion	HG00512	Sequencing	Genotyping	Heterozygous	328
nssv16257836	inversion	SAMN00006466	Sequencing	Genotyping	Homozygous	335
nssv16257838	inversion	SAMN00001695	Sequencing	Genotyping	Homozygous	368
nssv16258024	inversion	SAMN00006579	Sequencing	Genotyping	Homozygous	303
nssv16258614	inversion	SAMN00001696	Sequencing	Genotyping	Heterozygous	349
nssv16256188	inversion	SAMN00006466	Sequencing	Genotyping	Homozygous	335
nssv16257216	inversion	SAMN00006466	Sequencing	Genotyping	Homozygous	335
nssv16257750	inversion	SAMN00006466	Sequencing	Genotyping	Homozygous	335
nssv16256235	inversion	SAMN00006579	Sequencing	Genotyping	Homozygous	303
nssv16256449	inversion	SAMN00006579	Sequencing	Genotyping	Homozygous	303
nssv16257701	inversion	SAMN00006579	Sequencing	Genotyping	Homozygous	303
nssv16258131	inversion	SAMN00001695	Sequencing	Genotyping	Homozygous	368
nssv16255908	inversion	HG00514	Sequencing	Genotyping	Homozygous	338
nssv16256755	inversion	HG00514	Sequencing	Genotyping	Homozygous	338
nssv16257791	inversion	HG00514	Sequencing	Genotyping	Homozygous	338
nssv16257472	inversion	SAMN00006581	Sequencing	Genotyping	Homozygous	348
nssv16258565	inversion	SAMN00006580	Sequencing	Genotyping	Homozygous	344

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16257152	Submitted genomic		NC_000018.10:g.121 41461_12150226inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,141,461	12,150,226
nssv16257690	Submitted genomic		NC_000018.10:g.121 41461_12150226inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,141,461	12,150,226
nssv16258723	Submitted genomic		NC_000018.10:g.121 41461_12150226inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,141,461	12,150,226
nssv16257069	Submitted genomic		NC_000018.10:g.121 41473_12150144inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,141,473	12,150,144
nssv16258447	Submitted genomic		NC_000018.10:g.121 43284_12148329inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,143,284	12,148,329
nssv16257045	Submitted genomic		NC_000018.10:g.121 43284_12150155inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,143,284	12,150,155
nssv16257122	Submitted genomic		NC_000018.10:g.121 43284_12150155inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,143,284	12,150,155
nssv16257836	Submitted genomic		NC_000018.10:g.121 43284_12150155inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,143,284	12,150,155
nssv16257838	Submitted genomic		NC_000018.10:g.121 43284_12150155inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,143,284	12,150,155
nssv16258024	Submitted genomic		NC_000018.10:g.121 43284_12150155inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,143,284	12,150,155
nssv16258614	Submitted genomic		NC_000018.10:g.121 43284_12150155inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,143,284	12,150,155
nssv16256188	Submitted genomic		NC_000018.10:g.121 44729_12150238inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,144,729	12,150,238
nssv16257216	Submitted genomic		NC_000018.10:g.121 44729_12150238inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,144,729	12,150,238
nssv16257750	Submitted genomic		NC_000018.10:g.121 44729_12150238inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,144,729	12,150,238
nssv16256235	Submitted genomic		NC_000018.10:g.121 44789_12150137inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,144,789	12,150,137
nssv16256449	Submitted genomic		NC_000018.10:g.121 44789_12150137inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,144,789	12,150,137
nssv16257701	Submitted genomic		NC_000018.10:g.121 44789_12150137inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,144,789	12,150,137
nssv16258131	Submitted genomic		NC_000018.10:g.121 44997_12146903inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,144,997	12,146,903
nssv16255908	Submitted genomic		NC_000018.10:g.121 45022_12150137inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,145,022	12,150,137
nssv16256755	Submitted genomic		NC_000018.10:g.121 45022_12150137inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,145,022	12,150,137
nssv16257791	Submitted genomic		NC_000018.10:g.121 45022_12150137inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,145,022	12,150,137
nssv16257472	Submitted genomic		NC_000018.10:g.121 45096_12146509inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,145,096	12,146,509
nssv16258565	Submitted genomic		NC_000018.10:g.121 45096_12146509inv	GRCh38 (hg38)		NC_000018.10	Chr18	12,145,096	12,146,509
nssv16257152	Remapped	Perfect	NC_000018.9:g.1214 1460_12150225inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,141,460	12,150,225
nssv16257690	Remapped	Perfect	NC_000018.9:g.1214 1460_12150225inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,141,460	12,150,225
nssv16258723	Remapped	Perfect	NC_000018.9:g.1214 1460_12150225inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,141,460	12,150,225
nssv16257069	Remapped	Perfect	NC_000018.9:g.1214 1472_12150143inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,141,472	12,150,143
nssv16258447	Remapped	Perfect	NC_000018.9:g.1214 3283_12148328inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,143,283	12,148,328
nssv16257045	Remapped	Perfect	NC_000018.9:g.1214 3283_12150154inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,143,283	12,150,154
nssv16257122	Remapped	Perfect	NC_000018.9:g.1214 3283_12150154inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,143,283	12,150,154
nssv16257836	Remapped	Perfect	NC_000018.9:g.1214 3283_12150154inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,143,283	12,150,154
nssv16257838	Remapped	Perfect	NC_000018.9:g.1214 3283_12150154inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,143,283	12,150,154
nssv16258024	Remapped	Perfect	NC_000018.9:g.1214 3283_12150154inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,143,283	12,150,154
nssv16258614	Remapped	Perfect	NC_000018.9:g.1214 3283_12150154inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,143,283	12,150,154
nssv16256188	Remapped	Perfect	NC_000018.9:g.1214 4728_12150237inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,144,728	12,150,237
nssv16257216	Remapped	Perfect	NC_000018.9:g.1214 4728_12150237inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,144,728	12,150,237
nssv16257750	Remapped	Perfect	NC_000018.9:g.1214 4728_12150237inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,144,728	12,150,237
nssv16256235	Remapped	Perfect	NC_000018.9:g.1214 4788_12150136inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,144,788	12,150,136
nssv16256449	Remapped	Perfect	NC_000018.9:g.1214 4788_12150136inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,144,788	12,150,136
nssv16257701	Remapped	Perfect	NC_000018.9:g.1214 4788_12150136inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,144,788	12,150,136
nssv16258131	Remapped	Perfect	NC_000018.9:g.1214 4996_12146902inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,144,996	12,146,902
nssv16255908	Remapped	Perfect	NC_000018.9:g.1214 5021_12150136inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,145,021	12,150,136
nssv16256755	Remapped	Perfect	NC_000018.9:g.1214 5021_12150136inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,145,021	12,150,136
nssv16257791	Remapped	Perfect	NC_000018.9:g.1214 5021_12150136inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,145,021	12,150,136
nssv16257472	Remapped	Perfect	NC_000018.9:g.1214 5095_12146508inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,145,095	12,146,508
nssv16258565	Remapped	Perfect	NC_000018.9:g.1214 5095_12146508inv	GRCh37.p13	First Pass	NC_000018.9	Chr18	12,145,095	12,146,508

dbVar

Database of genomic structural variation

nsv4730252

Links to Other Resources

Genome View

Variant Region Placement Information

Variant Call Information

Variant Call Placement Information

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

No genotype data were submitted for this variant