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dbVar

Database of genomic structural variation

nsv2781916

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: 128 SVs from 19 studies. See in: genome view

Remapped(Score: Perfect):201,894,853-201,894,853

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781916	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	201,894,853	201,894,853	+
nsv2781916	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	201,894,853	201,894,853	-
nsv2781916	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	239,985,723	239,985,723	+
nsv2781916	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000001.11	Chr1	239,985,728	239,985,728	-
nsv2781916	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	201,863,981	201,863,981	+
nsv2781916	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	201,863,981	201,863,981	-
nsv2781916	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	240,149,023	240,149,023	+
nsv2781916	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000001.10	Chr1	240,149,028	240,149,028	-

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660316	inversion	ROC10	Sequencing	Split read and paired-end mapping	SCV000320912	nssv13660317
nssv13660317	inversion	ROC10	Sequencing	Split read and paired-end mapping	SCV000320912	nssv13660316

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13660316	Remapped	Perfect	NC_000001.11:g.201 894853inv547NC_000 001.11:g.239985728 inv547	GRCh38.p12	First Pass	NC_000001.11	Chr1	201,894,853	201,894,853
nssv13660317	Remapped	Perfect	NC_000001.11:g.201 894853inv686NC_000 001.11:g.239985723 inv686	GRCh38.p12	First Pass	NC_000001.11	Chr1	201,894,853	201,894,853
nssv13660317	Remapped	Perfect	NC_000001.11:g.201 894853inv686NC_000 001.11:g.239985723 inv686	GRCh38.p12	First Pass	NC_000001.11	Chr1	239,985,723	239,985,723
nssv13660316	Remapped	Perfect	NC_000001.11:g.201 894853inv547NC_000 001.11:g.239985728 inv547	GRCh38.p12	First Pass	NC_000001.11	Chr1	239,985,728	239,985,728
nssv13660316	Submitted genomic		[NC_000001.10:g.20 1863981inv547];[NC _000001.10:g.24014 9028inv547]	GRCh37 (hg19)		NC_000001.10	Chr1	201,863,981	201,863,981
nssv13660317	Submitted genomic		[NC_000001.10:g.20 1863981inv686];[NC _000001.10:g.24014 9023inv686]	GRCh37 (hg19)		NC_000001.10	Chr1	201,863,981	201,863,981
nssv13660317	Submitted genomic		[NC_000001.10:g.20 1863981inv686];[NC _000001.10:g.24014 9023inv686]	GRCh37 (hg19)		NC_000001.10	Chr1	240,149,023	240,149,023
nssv13660316	Submitted genomic		[NC_000001.10:g.20 1863981inv547];[NC _000001.10:g.24014 9028inv547]	GRCh37 (hg19)		NC_000001.10	Chr1	240,149,028	240,149,028

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
nssv13660316	ROC10	GRCh37: [NC_000001.10:g.201863981inv547];[NC_000001.10:g.240149028inv547]	inversion		SCV000320912	Female	nssv13660317
nssv13660317	ROC10	GRCh37: [NC_000001.10:g.201863981inv686];[NC_000001.10:g.240149023inv686]	inversion		SCV000320912	Female	nssv13660316

No genotype data were submitted for this variant

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