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dbVar

Database of genomic structural variation

nsv2781808

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

Remapped(Score: Perfect):24,272,189-24,272,189

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781808	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	24,272,189	24,272,189	-
nsv2781808	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	24,272,193	24,272,193	+
nsv2781808	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	89,105,026	89,105,026	-
nsv2781808	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	89,105,031	89,105,031	+
nsv2781808	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	24,272,298	24,272,298	-
nsv2781808	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	24,272,302	24,272,302	+
nsv2781808	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	88,400,843	88,400,843	-
nsv2781808	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	88,400,848	88,400,848	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660084	inversion	DGAP218	Sequencing	Split read and paired-end mapping	SCV000320833	nssv13660083
nssv13660083	inversion	DGAP218	Sequencing	Split read and paired-end mapping	SCV000320833	nssv13660084

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13660084	Remapped	Perfect	NC_000005.10:g.242 72189inv230NC_0000 05.10:g.89105031in v230	GRCh38.p12	First Pass	NC_000005.10	Chr5	24,272,189	24,272,189
nssv13660083	Remapped	Perfect	NC_000005.10:g.242 72193inv227NC_0000 05.10:g.89105026in v227	GRCh38.p12	First Pass	NC_000005.10	Chr5	24,272,193	24,272,193
nssv13660083	Remapped	Perfect	NC_000005.10:g.242 72193inv227NC_0000 05.10:g.89105026in v227	GRCh38.p12	First Pass	NC_000005.10	Chr5	89,105,026	89,105,026
nssv13660084	Remapped	Perfect	NC_000005.10:g.242 72189inv230NC_0000 05.10:g.89105031in v230	GRCh38.p12	First Pass	NC_000005.10	Chr5	89,105,031	89,105,031
nssv13660084	Submitted genomic		[NC_000005.9:g.242 72298inv230];[NC_0 00005.9:g.88400848 inv230]	GRCh37 (hg19)		NC_000005.9	Chr5	24,272,298	24,272,298
nssv13660083	Submitted genomic		[NC_000005.9:g.242 72302inv227];[NC_0 00005.9:g.88400843 inv227]	GRCh37 (hg19)		NC_000005.9	Chr5	24,272,302	24,272,302
nssv13660083	Submitted genomic		[NC_000005.9:g.242 72302inv227];[NC_0 00005.9:g.88400843 inv227]	GRCh37 (hg19)		NC_000005.9	Chr5	88,400,843	88,400,843
nssv13660084	Submitted genomic		[NC_000005.9:g.242 72298inv230];[NC_0 00005.9:g.88400848 inv230]	GRCh37 (hg19)		NC_000005.9	Chr5	88,400,848	88,400,848

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
nssv13660084	DGAP218	GRCh37: [NC_000005.9:g.24272298inv230];[NC_000005.9:g.88400848inv230]	inversion		SCV000320833	Female	nssv13660083
nssv13660083	DGAP218	GRCh37: [NC_000005.9:g.24272302inv227];[NC_000005.9:g.88400843inv227]	inversion		SCV000320833	Female	nssv13660084

No genotype data were submitted for this variant

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