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dbVar

Database of genomic structural variation

nsv3875906

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh37, GRCh38

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:32,825

Description:
See descriptions for individual calls in download files
Publication(s):Flockhart et al. 2008, Furie et al. 2013, Johnson et al. 2011, Johnson et al. 2017, McClain et al. 2008, Oscarson et al. 2002, Shaw et al. 2015

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: 1120 SVs from 87 studies. See in: genome view

Submitted genomic40,848,764-40,881,588

Variant Region Placement Information

Variant Region ID	Placement Type	Assembly	Assembly Unit	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv3875906	Submitted genomic	GRCh38 (hg38)	Primary Assembly	NC_000019.10	Chr19	40,848,764	40,849,817	40,880,629	40,881,588
nsv3875906	Submitted genomic	GRCh37 (hg19)	Primary Assembly	NC_000019.9	Chr19	41,354,669	41,355,722	41,386,534	41,387,493

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15119736	deletion	Multiple	Multiple	See individual phenotypes in OMIM allelic variants	drug response	ClinVar	RCV000018494.26, VCV000016973.2
nssv15120204	deletion	Multiple	Multiple	COUMARIN RESISTANCE; See individual phenotypes in OMIM allelic variants; Warfarin response	drug response	ClinVar	RCV000018493.29, VCV000016973.2

Variant Call Placement Information

Variant Call ID	Placement Type	HGVS	Assembly	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15119736	Submitted genomic	NC_000019.10:g.(40 848764_40849817)_( 40880629_40881588) del	GRCh38 (hg38)	NC_000019.10	Chr19	40,848,764	40,849,817	40,880,629	40,881,588
nssv15120204	Submitted genomic	NC_000019.10:g.(40 848764_40849817)_( 40880629_40881588) del	GRCh38 (hg38)	NC_000019.10	Chr19	40,848,764	40,849,817	40,880,629	40,881,588
nssv15119736	Submitted genomic	NC_000019.9:g.(413 54669_41355722)_(4 1386534_41387493)d el	GRCh37 (hg19)	NC_000019.9	Chr19	41,354,669	41,355,722	41,386,534	41,387,493
nssv15120204	Submitted genomic	NC_000019.9:g.(413 54669_41355722)_(4 1386534_41387493)d el	GRCh37 (hg19)	NC_000019.9	Chr19	41,354,669	41,355,722	41,386,534	41,387,493

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15119736	GRCh37: NC_000019.9:g.(41354669_41355722)_(41386534_41387493)del, GRCh38: NC_000019.10:g.(40848764_40849817)_(40880629_40881588)del	deletion	germline	See individual phenotypes in OMIM allelic variants	drug response	ClinVar	RCV000018494.26, VCV000016973.2
nssv15120204	GRCh37: NC_000019.9:g.(41354669_41355722)_(41386534_41387493)del, GRCh38: NC_000019.10:g.(40848764_40849817)_(40880629_40881588)del	deletion	germline	COUMARIN RESISTANCE; See individual phenotypes in OMIM allelic variants; Warfarin response	drug response	ClinVar	RCV000018493.29, VCV000016973.2

No genotype data were submitted for this variant

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