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dbVar

Database of genomic structural variation

nsv4675287

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:1,084,263

Description:GRCh37/hg19 16q23.3(chr16:81983037-83067299)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: 2924 SVs from 92 studies. See in: genome view

Remapped(Score: Perfect):81,949,432-83,033,694

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4675287	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000016.10	Chr16	81,949,432	83,033,694
nsv4675287	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000016.9	Chr16	81,983,037	83,067,299

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16207288	copy number gain	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV001006828.1, VCV000815854.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16207288	Remapped	Perfect	NC_000016.10:g.(?_ 81949432)_(8303369 4_?)dup	GRCh38.p12	First Pass	NC_000016.10	Chr16	81,949,432	83,033,694
nssv16207288	Submitted genomic		NC_000016.9:g.(?_8 1983037)_(83067299 _?)dup	GRCh37 (hg19)		NC_000016.9	Chr16	81,983,037	83,067,299

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
nssv16207288	GRCh37: NC_000016.9:g.(?_81983037)_(83067299_?)dup	copy number gain	germline	not provided	Likely benign	ClinVar	RCV001006828.1, VCV000815854.1	3

No genotype data were submitted for this variant

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