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dbVar

Database of genomic structural variation

nsv6137861

Organism: Homo sapiens

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

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:754,196

Description:nsv513778 AND Bone mineral density quantitative trait locus 12
Publication(s):Yang et al. 2008

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: 3956 SVs from 121 studies. See in: genome view

Remapped(Score: Perfect):68,005,925-68,760,120

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nsv6137861	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	68,005,925	68,537,184	68,568,527	68,760,120
nsv6137861	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	68,871,643	69,402,902	69,434,245	69,625,838

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17683644	deletion	Multiple	Multiple	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12; BMND12; Bone mineral density quantitative trait locus 12	association	ClinVar	RCV000008070.2, VCV000007631.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv17683644	Remapped	Perfect	NC_000004.12:g.(68 005925_68537184)_( 68568527_68760120) del	GRCh38.p12	First Pass	NC_000004.12	Chr4	68,005,925	68,537,184	68,568,527	68,760,120
nssv17683644	Submitted genomic		NC_000004.11:g.(68 871643_69402902)_( 69434245_69625838) del	GRCh37 (hg19)		NC_000004.11	Chr4	68,871,643	69,402,902	69,434,245	69,625,838

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
nssv17683644	GRCh37: NC_000004.11:g.(68871643_69402902)_(69434245_69625838)del	deletion	germline	BONE MINERAL DENSITY QUANTITATIVE TRAIT LOCUS 12; BMND12; Bone mineral density quantitative trait locus 12	association	ClinVar	RCV000008070.2, VCV000007631.1

No genotype data were submitted for this variant

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