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dbVar

Database of genomic structural variation

nsv4457295

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:521,215

Description:GRCh37/hg19 7p11.2(chr7:54644022-55165236)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: 1290 SVs from 72 studies. See in: genome view

Remapped(Score: Perfect):54,576,329-55,097,543

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4457295	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000007.14	Chr7	54,576,329	55,097,543
nsv4457295	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000007.13	Chr7	54,644,022	55,165,236

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15776555	copy number gain	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000849549.2, VCV000688858.2	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15776555	Remapped	Perfect	NC_000007.14:g.(?_ 54576329)_(5509754 3_?)dup	GRCh38.p12	First Pass	NC_000007.14	Chr7	54,576,329	55,097,543
nssv15776555	Submitted genomic		NC_000007.13:g.(?_ 54644022)_(5516523 6_?)dup	GRCh37 (hg19)		NC_000007.13	Chr7	54,644,022	55,165,236

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
nssv15776555	GRCh37: NC_000007.13:g.(?_54644022)_(55165236_?)dup	copy number gain	unknown	not provided	Uncertain significance	ClinVar	RCV000849549.2, VCV000688858.2	3

No genotype data were submitted for this variant

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