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dbVar

Database of genomic structural variation

nsv6313848

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:9,612,636

Description:GRCh37/hg19 4q21.21-22.1(chr4:81054789-90667421) AND not specified

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: 24893 SVs from 126 studies. See in: genome view

Remapped(Score: Perfect):80,133,635-89,746,270

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6313848	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000004.12	Chr4	80,133,635	89,746,270
nsv6313848	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000004.11	Chr4	81,054,789	90,667,421

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17969963	copy number loss	Multiple	Multiple	not specified	Pathogenic	ClinVar	RCV002053435.3, VCV001527103.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17969963	Remapped	Perfect	NC_000004.12:g.(?_ 80133635)_(8974627 0_?)del	GRCh38.p12	First Pass	NC_000004.12	Chr4	80,133,635	89,746,270
nssv17969963	Submitted genomic		NC_000004.11:g.(?_ 81054789)_(9066742 1_?)del	GRCh37 (hg19)		NC_000004.11	Chr4	81,054,789	90,667,421

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
nssv17969963	GRCh37: NC_000004.11:g.(?_81054789)_(90667421_?)del	copy number loss	germline	not specified	Pathogenic	ClinVar	RCV002053435.3, VCV001527103.3

No genotype data were submitted for this variant

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