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dbVar

Database of genomic structural variation

nsv3917427

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:NCBI36

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:57,617,672

Description:NCBI36/hg18 16p11.2-q24.3(chr16:32529496-33692866)x3 AND See cases

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: 142812 SVs from 150 studies. See in: genome view

Remapped(Score: Good):32,610,674-90,228,345

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nsv3917427	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	32,610,674	90,228,345	90,228,345
nsv3917427	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	32,621,995	90,294,753	90,294,753
nsv3917427	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	32,529,496	33,692,866	88,822,254

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15126370	copy number gain	Multiple	Multiple	See cases	Benign	ClinVar	RCV000450857.2, VCV000399318.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop	Outer Stop
nssv15126370	Remapped	Good	NC_000016.10:g.(?_ 32610674)_(9022834 5_90228345)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	32,610,674	90,228,345	90,228,345
nssv15126370	Remapped	Good	NC_000016.9:g.(?_3 2621995)_(90294753 _90294753)dup	GRCh37.p13	First Pass	NC_000016.9	Chr16	32,621,995	90,294,753	90,294,753
nssv15126370	Submitted genomic		NC_000016.8:g.(?_3 2529496)_(33692866 _88822254)dup	NCBI36 (hg18)		NC_000016.8	Chr16	32,529,496	33,692,866	88,822,254

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	Copy number
nssv15126370	NCBI36: NC_000016.8:g.(?_32529496)_(33692866_88822254)dup	copy number gain	not provided	See cases	Benign	ClinVar	RCV000450857.2, VCV000399318.2	3

No genotype data were submitted for this variant

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