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dbVar

Database of genomic structural variation

nsv2781921

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: 429 SVs from 31 studies. See in: genome view

Remapped(Score: Perfect):52,404,034-52,404,034

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781921	Remapped	Perfect	GRCh38.p12	Primary Assembly	Second Pass	NC_000023.11	ChrX	52,404,034	52,404,034	+
nsv2781921	Remapped	Perfect	GRCh38.p12	Primary Assembly	Second Pass	NC_000023.11	ChrX	52,405,007	52,405,007	-
nsv2781921	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	55,650,976	55,650,976	-
nsv2781921	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000023.11	ChrX	55,653,096	55,653,096	+
nsv2781921	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	52,351,024	52,351,024	-
nsv2781921	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	52,351,997	52,351,997	+
nsv2781921	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	55,677,409	55,677,409	-
nsv2781921	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000023.10	ChrX	55,679,529	55,679,529	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660327	inversion	ROC16	Sequencing	Split read and paired-end mapping	SCV000320917	nssv13660328
nssv13660328	inversion	ROC16	Sequencing	Split read and paired-end mapping	SCV000320917	nssv13660327

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13660327	Remapped	Perfect	NC_000023.11:g.524 04034invNC_000023. 11:g.55650976inv	GRCh38.p12	Second Pass	NC_000023.11	ChrX	52,404,034	52,404,034
nssv13660328	Remapped	Perfect	NC_000023.11:g.524 05007invNC_000023. 11:g.55653096inv	GRCh38.p12	Second Pass	NC_000023.11	ChrX	52,405,007	52,405,007
nssv13660327	Remapped	Perfect	NC_000023.11:g.524 04034invNC_000023. 11:g.55650976inv	GRCh38.p12	First Pass	NC_000023.11	ChrX	55,650,976	55,650,976
nssv13660328	Remapped	Perfect	NC_000023.11:g.524 05007invNC_000023. 11:g.55653096inv	GRCh38.p12	First Pass	NC_000023.11	ChrX	55,653,096	55,653,096
nssv13660328	Submitted genomic		[NC_000023.10:g.52 351024inv];[NC_000 023.10:g.55679529i nv]	GRCh37 (hg19)		NC_000023.10	ChrX	52,351,024	52,351,024
nssv13660327	Submitted genomic		[NC_000023.10:g.52 351997inv];[NC_000 023.10:g.55677409i nv]	GRCh37 (hg19)		NC_000023.10	ChrX	52,351,997	52,351,997
nssv13660327	Submitted genomic		[NC_000023.10:g.52 351997inv];[NC_000 023.10:g.55677409i nv]	GRCh37 (hg19)		NC_000023.10	ChrX	55,677,409	55,677,409
nssv13660328	Submitted genomic		[NC_000023.10:g.52 351024inv];[NC_000 023.10:g.55679529i nv]	GRCh37 (hg19)		NC_000023.10	ChrX	55,679,529	55,679,529

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
nssv13660327	ROC16	GRCh37: [NC_000023.10:g.52351997inv];[NC_000023.10:g.55677409inv]	inversion		SCV000320917	Female	nssv13660328
nssv13660328	ROC16	GRCh37: [NC_000023.10:g.52351024inv];[NC_000023.10:g.55679529inv]	inversion		SCV000320917	Female	nssv13660327

No genotype data were submitted for this variant

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