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dbVar

Database of genomic structural variation

nsv4456913

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:14,693,213

Description:GRCh37/hg19 4q13.2-21.22(chr4:68242784-82991431)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: 41020 SVs from 135 studies. See in: genome view

Remapped(Score: Good):67,377,066-82,070,278

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4456913	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	67,377,066	82,070,278
nsv4456913	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	68,242,784	82,991,431

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15774461	copy number gain	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV000845944.2, VCV000685236.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15774461	Remapped	Good	NC_000004.12:g.(?_ 67377066)_(8207027 8_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	67,377,066	82,070,278
nssv15774461	Submitted genomic		NC_000004.11:g.(?_ 68242784)_(8299143 1_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	68,242,784	82,991,431

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
nssv15774461	GRCh37: NC_000004.11:g.(?_68242784)_(82991431_?)dup	copy number gain	unknown	not provided	Pathogenic	ClinVar	RCV000845944.2, VCV000685236.2	3

No genotype data were submitted for this variant

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