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dbVar

Database of genomic structural variation

nsv2781817

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: 110 SVs from 25 studies. See in: genome view

Remapped(Score: Perfect):64,254,366-64,254,366

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781817	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	64,254,366	64,254,366	-
nsv2781817	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	64,254,370	64,254,370	+
nsv2781817	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	94,572,549	94,572,549	-
nsv2781817	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000014.9	Chr14	94,572,550	94,572,550	+
nsv2781817	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	64,721,084	64,721,084	-
nsv2781817	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	64,721,088	64,721,088	+
nsv2781817	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	95,038,886	95,038,886	-
nsv2781817	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000014.8	Chr14	95,038,887	95,038,887	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660093	inversion	DGAP223	Sequencing	Split read and paired-end mapping	SCV000320837	nssv13660092
nssv13660092	inversion	DGAP223	Sequencing	Split read and paired-end mapping	SCV000320837	nssv13660093

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13660093	Remapped	Perfect	NC_000014.9:g.6425 4366inv794NC_00001 4.9:g.94572550inv7 94	GRCh38.p12	First Pass	NC_000014.9	Chr14	64,254,366	64,254,366
nssv13660092	Remapped	Perfect	NC_000014.9:g.6425 4370inv1046NC_0000 14.9:g.94572549inv 1046	GRCh38.p12	First Pass	NC_000014.9	Chr14	64,254,370	64,254,370
nssv13660092	Remapped	Perfect	NC_000014.9:g.6425 4370inv1046NC_0000 14.9:g.94572549inv 1046	GRCh38.p12	First Pass	NC_000014.9	Chr14	94,572,549	94,572,549
nssv13660093	Remapped	Perfect	NC_000014.9:g.6425 4366inv794NC_00001 4.9:g.94572550inv7 94	GRCh38.p12	First Pass	NC_000014.9	Chr14	94,572,550	94,572,550
nssv13660093	Submitted genomic		[NC_000014.8:g.647 21084inv794];[NC_0 00014.8:g.95038887 inv794]	GRCh37 (hg19)		NC_000014.8	Chr14	64,721,084	64,721,084
nssv13660092	Submitted genomic		[NC_000014.8:g.647 21088inv1046];[NC_ 000014.8:g.9503888 6inv1046]	GRCh37 (hg19)		NC_000014.8	Chr14	64,721,088	64,721,088
nssv13660092	Submitted genomic		[NC_000014.8:g.647 21088inv1046];[NC_ 000014.8:g.9503888 6inv1046]	GRCh37 (hg19)		NC_000014.8	Chr14	95,038,886	95,038,886
nssv13660093	Submitted genomic		[NC_000014.8:g.647 21084inv794];[NC_0 00014.8:g.95038887 inv794]	GRCh37 (hg19)		NC_000014.8	Chr14	95,038,887	95,038,887

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
nssv13660093	DGAP223	GRCh37: [NC_000014.8:g.64721084inv794];[NC_000014.8:g.95038887inv794]	inversion		SCV000320837	Female	nssv13660092
nssv13660092	DGAP223	GRCh37: [NC_000014.8:g.64721088inv1046];[NC_000014.8:g.95038886inv1046]	inversion		SCV000320837	Female	nssv13660093

No genotype data were submitted for this variant

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