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dbVar

Database of genomic structural variation

nsv2781960

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: 164 SVs from 28 studies. See in: genome view

Remapped(Score: Perfect):118,861,211-118,861,211

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781960	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	118,861,211	118,861,211	-
nsv2781960	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	118,864,914	118,864,914	+
nsv2781960	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	85,894,483	85,894,483	+
nsv2781960	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	85,894,507	85,894,507	-
nsv2781960	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	118,196,906	118,196,906	-
nsv2781960	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	118,200,609	118,200,609	+
nsv2781960	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	85,190,301	85,190,301	+
nsv2781960	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	85,190,325	85,190,325	-

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660464	inversion	NIJ4	Sequencing	Split read and paired-end mapping	SCV000320956	nssv13660465
nssv13660465	inversion	NIJ4	Sequencing	Split read and paired-end mapping	SCV000320956	nssv13660464

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13660464	Remapped	Perfect	NC_000005.10:g.858 94483invNC_000005. 10:g.118861211inv	GRCh38.p12	First Pass	NC_000005.10	Chr5	85,894,483	85,894,483
nssv13660465	Remapped	Perfect	NC_000005.10:g.858 94507invNC_000005. 10:g.118864914inv	GRCh38.p12	First Pass	NC_000005.10	Chr5	85,894,507	85,894,507
nssv13660464	Remapped	Perfect	NC_000005.10:g.858 94483invNC_000005. 10:g.118861211inv	GRCh38.p12	First Pass	NC_000005.10	Chr5	118,861,211	118,861,211
nssv13660465	Remapped	Perfect	NC_000005.10:g.858 94507invNC_000005. 10:g.118864914inv	GRCh38.p12	First Pass	NC_000005.10	Chr5	118,864,914	118,864,914
nssv13660464	Submitted genomic		[NC_000005.9:g.851 90301inv];[NC_0000 05.9:g.118196906in v]	GRCh37 (hg19)		NC_000005.9	Chr5	85,190,301	85,190,301
nssv13660465	Submitted genomic		[NC_000005.9:g.851 90325inv];[NC_0000 05.9:g.118200609in v]	GRCh37 (hg19)		NC_000005.9	Chr5	85,190,325	85,190,325
nssv13660464	Submitted genomic		[NC_000005.9:g.851 90301inv];[NC_0000 05.9:g.118196906in v]	GRCh37 (hg19)		NC_000005.9	Chr5	118,196,906	118,196,906
nssv13660465	Submitted genomic		[NC_000005.9:g.851 90325inv];[NC_0000 05.9:g.118200609in v]	GRCh37 (hg19)		NC_000005.9	Chr5	118,200,609	118,200,609

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
nssv13660464	NIJ4	GRCh37: [NC_000005.9:g.85190301inv];[NC_000005.9:g.118196906inv]	inversion		SCV000320956	Female	nssv13660465
nssv13660465	NIJ4	GRCh37: [NC_000005.9:g.85190325inv];[NC_000005.9:g.118200609inv]	inversion		SCV000320956	Female	nssv13660464

No genotype data were submitted for this variant

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