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dbVar

Database of genomic structural variation

nsv6636254

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:1,242,533

Description:GRCh37/hg19 4q32.3(chr4:164980534-166223066)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: 4350 SVs from 103 studies. See in: genome view

Remapped(Score: Perfect):164,059,382-165,301,914

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6636254	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	164,059,382	165,301,914
nsv6636254	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	164,980,534	166,223,066

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18330854	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV002472715.1, VCV001807909.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18330854	Remapped	Perfect	NC_000004.12:g.(?_ 164059382)_(165301 914_?)dup	GRCh38.p12	First Pass	NC_000004.12	Chr4	164,059,382	165,301,914
nssv18330854	Submitted genomic		NC_000004.11:g.(?_ 164980534)_(166223 066_?)dup	GRCh37 (hg19)		NC_000004.11	Chr4	164,980,534	166,223,066

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
nssv18330854	GRCh37: NC_000004.11:g.(?_164980534)_(166223066_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV002472715.1, VCV001807909.1	3

No genotype data were submitted for this variant

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