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dbVar

Database of genomic structural variation

nsv3245250

Organism: Homo sapiens

Study:nstd152 (Chaisson et al. 2019)
Variant Type:sequence alteration
Method Type:Sequencing
Submitted on:GRCh38 (hg38)

Variant Calls:8
Validation:Not tested
Clinical Assertions: No
Region Size:8,473

Publication(s):Chaisson et al. 2019

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: 225 SVs from 43 studies. See in: genome view

Submitted genomic166,030,963-166,039,517

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv3245250	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000006.12	Chr6	166,031,004 (-41, +41)	166,039,476 (-41, +41)
nsv3245250	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000006.11	Chr6	166,444,492 (-41, +41)	166,452,964 (-41, +41)

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	Zygosity	Other Calls in this Sample and Study
nssv14332129	sequence alteration	HG00512	Sequencing	Sequence alignment	Heterozygous	13,827
nssv14332130	sequence alteration	SAMN00006466	Sequencing	Sequence alignment	Heterozygous	14,137
nssv14332131	sequence alteration	HG00514	Sequencing	Sequence alignment	Heterozygous	39,861
nssv14332132	sequence alteration	SAMN00006579	Sequencing	Sequence alignment	Heterozygous	13,953
nssv14332133	sequence alteration	SAMN00006580	Sequencing	Sequence alignment	Heterozygous	14,212
nssv14332134	sequence alteration	SAMN00006581	Sequencing	Sequence alignment	Heterozygous	41,185
nssv14332135	sequence alteration	SAMN00001694	Sequencing	Sequence alignment	Heterozygous	16,419
nssv14332136	sequence alteration	SAMN00001696	Sequencing	Sequence alignment	Heterozygous	45,591

Variant Call Placement Information

Variant Call ID	Placement Type	Score	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv14332129	Submitted genomic		GRCh38 (hg38)		NC_000006.12	Chr6	166,031,004 (-41, +41)	166,039,476 (-41, +41)
nssv14332130	Submitted genomic		GRCh38 (hg38)		NC_000006.12	Chr6	166,031,004 (-41, +41)	166,039,476 (-41, +41)
nssv14332131	Submitted genomic		GRCh38 (hg38)		NC_000006.12	Chr6	166,031,004 (-41, +41)	166,039,476 (-41, +41)
nssv14332132	Submitted genomic		GRCh38 (hg38)		NC_000006.12	Chr6	166,031,004 (-41, +41)	166,039,476 (-41, +41)
nssv14332133	Submitted genomic		GRCh38 (hg38)		NC_000006.12	Chr6	166,031,004 (-41, +41)	166,039,476 (-41, +41)
nssv14332134	Submitted genomic		GRCh38 (hg38)		NC_000006.12	Chr6	166,031,004 (-41, +41)	166,039,476 (-41, +41)
nssv14332135	Submitted genomic		GRCh38 (hg38)		NC_000006.12	Chr6	166,031,004 (-41, +41)	166,039,476 (-41, +41)
nssv14332136	Submitted genomic		GRCh38 (hg38)		NC_000006.12	Chr6	166,031,004 (-41, +41)	166,039,476 (-41, +41)
nssv14332129	Remapped	Perfect	GRCh37.p13	First Pass	NC_000006.11	Chr6	166,444,492 (-41, +41)	166,452,964 (-41, +41)
nssv14332130	Remapped	Perfect	GRCh37.p13	First Pass	NC_000006.11	Chr6	166,444,492 (-41, +41)	166,452,964 (-41, +41)
nssv14332131	Remapped	Perfect	GRCh37.p13	First Pass	NC_000006.11	Chr6	166,444,492 (-41, +41)	166,452,964 (-41, +41)
nssv14332132	Remapped	Perfect	GRCh37.p13	First Pass	NC_000006.11	Chr6	166,444,492 (-41, +41)	166,452,964 (-41, +41)
nssv14332133	Remapped	Perfect	GRCh37.p13	First Pass	NC_000006.11	Chr6	166,444,492 (-41, +41)	166,452,964 (-41, +41)
nssv14332134	Remapped	Perfect	GRCh37.p13	First Pass	NC_000006.11	Chr6	166,444,492 (-41, +41)	166,452,964 (-41, +41)
nssv14332135	Remapped	Perfect	GRCh37.p13	First Pass	NC_000006.11	Chr6	166,444,492 (-41, +41)	166,452,964 (-41, +41)
nssv14332136	Remapped	Perfect	GRCh37.p13	First Pass	NC_000006.11	Chr6	166,444,492 (-41, +41)	166,452,964 (-41, +41)

No validation data were submitted for this variant

No clinical assertion data were submitted for this variant

Genotype and/or allele frequency data can be found on dbVar's FTP site.

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