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dbVar

Database of genomic structural variation

nsv6314755

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:43,618,599

Description:GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3 AND not provided

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: 127256 SVs from 146 studies. See in: genome view

Remapped(Score: Good):46,470,056-90,088,654

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nsv6314755	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	46,470,056	90,088,654
nsv6314755	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	46,503,968	90,155,062

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv17976066	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV002221458.2, VCV001676307.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Outer Start	Outer Stop
nssv17976066	Remapped	Good	NC_000016.10:g.(46 470056_?)_(?_90088 654)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	46,470,056	90,088,654
nssv17976066	Submitted genomic		NC_000016.9:g.(465 03968_?)_(?_901550 62)dup	GRCh37 (hg19)		NC_000016.9	Chr16	46,503,968	90,155,062

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
nssv17976066	GRCh37: NC_000016.9:g.(46503968_?)_(?_90155062)dup	copy number gain	de novo	not provided	Pathogenic	ClinVar	RCV002221458.2, VCV001676307.2	3

No genotype data were submitted for this variant

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