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dbVar

Database of genomic structural variation

nsv2781903

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: 114 SVs from 24 studies. See in: genome view

Remapped(Score: Perfect):111,687,317-111,687,317

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop	strand
nsv2781903	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	111,687,317	111,687,317	+
nsv2781903	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	111,687,318	111,687,318	-
nsv2781903	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	189,951,390	189,951,390	-
nsv2781903	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000003.12	Chr3	189,951,400	189,951,400	+
nsv2781903	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	111,406,164	111,406,164	+
nsv2781903	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	111,406,165	111,406,165	-
nsv2781903	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	189,669,179	189,669,179	-
nsv2781903	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000003.11	Chr3	189,669,189	189,669,189	+

Variant Call Information

Variant Call ID	Type	Sample ID	Method	Analysis	ClinVar ID	Other Calls in this Sample and Study
nssv13660291	inversion	MGH4	Sequencing	Split read and paired-end mapping	SCV000320899	nssv13660292
nssv13660292	inversion	MGH4	Sequencing	Split read and paired-end mapping	SCV000320899	nssv13660291

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv13660291	Remapped	Perfect	NC_000003.12:g.111 687317inv740NC_000 003.12:g.189951390 inv740	GRCh38.p12	First Pass	NC_000003.12	Chr3	111,687,317	111,687,317
nssv13660292	Remapped	Perfect	NC_000003.12:g.111 687318inv538NC_000 003.12:g.189951400 inv538	GRCh38.p12	First Pass	NC_000003.12	Chr3	111,687,318	111,687,318
nssv13660291	Remapped	Perfect	NC_000003.12:g.111 687317inv740NC_000 003.12:g.189951390 inv740	GRCh38.p12	First Pass	NC_000003.12	Chr3	189,951,390	189,951,390
nssv13660292	Remapped	Perfect	NC_000003.12:g.111 687318inv538NC_000 003.12:g.189951400 inv538	GRCh38.p12	First Pass	NC_000003.12	Chr3	189,951,400	189,951,400
nssv13660291	Submitted genomic		[NC_000003.11:g.11 1406164inv740];[NC _000003.11:g.18966 9179inv740]	GRCh37 (hg19)		NC_000003.11	Chr3	111,406,164	111,406,164
nssv13660292	Submitted genomic		[NC_000003.11:g.11 1406165inv538];[NC _000003.11:g.18966 9189inv538]	GRCh37 (hg19)		NC_000003.11	Chr3	111,406,165	111,406,165
nssv13660291	Submitted genomic		[NC_000003.11:g.11 1406164inv740];[NC _000003.11:g.18966 9179inv740]	GRCh37 (hg19)		NC_000003.11	Chr3	189,669,179	189,669,179
nssv13660292	Submitted genomic		[NC_000003.11:g.11 1406165inv538];[NC _000003.11:g.18966 9189inv538]	GRCh37 (hg19)		NC_000003.11	Chr3	189,669,189	189,669,189

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
nssv13660291	MGH4	GRCh37: [NC_000003.11:g.111406164inv740];[NC_000003.11:g.189669179inv740]	inversion		SCV000320899	Female	nssv13660292
nssv13660292	MGH4	GRCh37: [NC_000003.11:g.111406165inv538];[NC_000003.11:g.189669189inv538]	inversion		SCV000320899	Female	nssv13660291

No genotype data were submitted for this variant

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