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dbVar

Database of genomic structural variation

nsv3972183

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:184,165

Description:GRCh37/hg19 4q22.3(chr4:95987699-96171863)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: 533 SVs from 56 studies. See in: genome view

Remapped(Score: Perfect):95,066,548-95,250,712

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3972183	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	95,066,548	95,250,712
nsv3972183	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	95,987,699	96,171,863

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15223202	copy number gain	Multiple	Multiple	not provided	Likely benign	ClinVar	RCV000762747.3, VCV000624516.3	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15223202	Remapped	Perfect	NC_000004.12:g.(?_ 95066548)_(9525071 2_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	95,066,548	95,250,712
nssv15223202	Submitted genomic		NC_000004.11:g.(?_ 95987699)_(9617186 3_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	95,987,699	96,171,863

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
nssv15223202	GRCh37: NC_000004.11:g.(?_95987699)_(96171863_?)dup	copy number gain	germline	not provided	Likely benign	ClinVar	RCV000762747.3, VCV000624516.3	3

No genotype data were submitted for this variant

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