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dbVar

Database of genomic structural variation

nsv2781947

Organism: Homo sapiens

Study:nstd133 (Redin et al. 2016)
Variant Type:complex chromosomal rearrangement
Method Type:Sequencing
Submitted on:GRCh37 (hg19)

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:1

Publication(s):Redin et al. 2016

Links to Other Resources

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: 303 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):130,981,976-130,981,976

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781947	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	130,981,976	130,981,976	-
nsv2781947	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	130,981,984	130,981,984	+
nsv2781947	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	33,721,751	33,721,751	+
nsv2781947	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000011.10	Chr11	33,721,756	33,721,756	-
nsv2781947	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	130,851,871	130,851,871	-
nsv2781947	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	130,851,879	130,851,879	+
nsv2781947	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	33,743,297	33,743,297	+
nsv2781947	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000011.9	Chr11	33,743,302	33,743,302	-

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660406	inversion	ROC50	Sequencing	Split read and paired-end mapping	SCV000320943	nssv13660407
nssv13660407	inversion	ROC50	Sequencing	Split read and paired-end mapping	SCV000320943	nssv13660406

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13660406	Remapped	Perfect	NC_000011.10:g.337 21751inv698NC_0000 11.10:g.130981976i nv698	GRCh38.p12	First Pass	NC_000011.10	Chr11	33,721,751	33,721,751
nssv13660407	Remapped	Perfect	NC_000011.10:g.337 21756inv553NC_0000 11.10:g.130981984i nv553	GRCh38.p12	First Pass	NC_000011.10	Chr11	33,721,756	33,721,756
nssv13660406	Remapped	Perfect	NC_000011.10:g.337 21751inv698NC_0000 11.10:g.130981976i nv698	GRCh38.p12	First Pass	NC_000011.10	Chr11	130,981,976	130,981,976
nssv13660407	Remapped	Perfect	NC_000011.10:g.337 21756inv553NC_0000 11.10:g.130981984i nv553	GRCh38.p12	First Pass	NC_000011.10	Chr11	130,981,984	130,981,984
nssv13660406	Submitted genomic		[NC_000011.9:g.337 43297inv698];[NC_0 00011.9:g.13085187 1inv698]	GRCh37 (hg19)		NC_000011.9	Chr11	33,743,297	33,743,297
nssv13660407	Submitted genomic		[NC_000011.9:g.337 43302inv553];[NC_0 00011.9:g.13085187 9inv553]	GRCh37 (hg19)		NC_000011.9	Chr11	33,743,302	33,743,302
nssv13660406	Submitted genomic		[NC_000011.9:g.337 43297inv698];[NC_0 00011.9:g.13085187 1inv698]	GRCh37 (hg19)		NC_000011.9	Chr11	130,851,871	130,851,871
nssv13660407	Submitted genomic		[NC_000011.9:g.337 43302inv553];[NC_0 00011.9:g.13085187 9inv553]	GRCh37 (hg19)		NC_000011.9	Chr11	130,851,879	130,851,879

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	Sample ID	HGVS	Type	Clinical Interpretation	ClinVar ID	Gender	Other Calls in this Sample and Study
nssv13660406	ROC50	GRCh37: [NC_000011.9:g.33743297inv698];[NC_000011.9:g.130851871inv698]	inversion		SCV000320943	Male	nssv13660407
nssv13660407	ROC50	GRCh37: [NC_000011.9:g.33743302inv553];[NC_000011.9:g.130851879inv553]	inversion		SCV000320943	Male	nssv13660406

No genotype data were submitted for this variant

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