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dbVar

Database of genomic structural variation

nsv4456473

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:169,197

Description:GRCh37/hg19 7p14.1(chr7:37818456-37987652)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: 558 SVs from 69 studies. See in: genome view

Remapped(Score: Perfect):37,778,854-37,948,050

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4456473	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	37,778,854	37,948,050
nsv4456473	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	37,818,456	37,987,652

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15773591	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000849934.2, VCV000689243.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15773591	Remapped	Perfect	NC_000007.14:g.(?_ 37778854)_(3794805 0_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	37,778,854	37,948,050
nssv15773591	Submitted genomic		NC_000007.13:g.(?_ 37818456)_(3798765 2_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	37,818,456	37,987,652

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
nssv15773591	GRCh37: NC_000007.13:g.(?_37818456)_(37987652_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000849934.2, VCV000689243.2	3

No genotype data were submitted for this variant

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