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dbVar

Database of genomic structural variation

nsv3912769

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:58,284,510

Description:NCBI36/hg18 16p11.2-q24.3(chr16:31893599-33705883)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: 145500 SVs from 150 studies. See in: genome view

Remapped(Score: Good):31,943,836-90,228,345

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
nsv3912769	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	31,943,836	31,943,836	90,228,345	90,228,345
nsv3912769	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000016.9	Chr16	31,955,157	31,955,157	90,294,753	90,294,753
nsv3912769	Submitted genomic		NCBI36 (hg18)	Primary Assembly		NC_000016.8	Chr16	31,862,658	31,893,599	33,705,883	88,822,254

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15125638	copy number gain	Multiple	Multiple	See cases	Benign	ClinVar	RCV000451318.2, VCV000399587.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Inner Start	Inner Stop	Outer Stop
nssv15125638	Remapped	Good	NC_000016.10:g.(31 943836_31943836)_( 90228345_90228345) dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	31,943,836	31,943,836	90,228,345	90,228,345
nssv15125638	Remapped	Good	NC_000016.9:g.(319 55157_31955157)_(9 0294753_90294753)d up	GRCh37.p13	First Pass	NC_000016.9	Chr16	31,955,157	31,955,157	90,294,753	90,294,753
nssv15125638	Submitted genomic		NC_000016.8:g.(318 62658_31893599)_(3 3705883_88822254)d up	NCBI36 (hg18)		NC_000016.8	Chr16	31,862,658	31,893,599	33,705,883	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
nssv15125638	NCBI36: NC_000016.8:g.(31862658_31893599)_(33705883_88822254)dup	copy number gain	not provided	See cases	Benign	ClinVar	RCV000451318.2, VCV000399587.2	3

No genotype data were submitted for this variant

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