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dbVar

Database of genomic structural variation

nsv4728831

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:3,752,402

Description:GRCh37/hg19 5q11.1-11.2(chr5:49430268-53182665)x1 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: 9144 SVs from 104 studies. See in: genome view

Remapped(Score: Perfect):50,134,434-53,886,835

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4728831	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	50,134,434	53,886,835
nsv4728831	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	49,430,268	53,182,665

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16255069	copy number loss	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001258850.1, VCV000979674.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16255069	Remapped	Perfect	NC_000005.10:g.(?_ 50134434)_(5388683 5_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	50,134,434	53,886,835
nssv16255069	Submitted genomic		NC_000005.9:g.(?_4 9430268)_(53182665 _?)del	GRCh37 (hg19)		NC_000005.9	Chr5	49,430,268	53,182,665

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
nssv16255069	GRCh37: NC_000005.9:g.(?_49430268)_(53182665_?)del	copy number loss	germline	not provided	Pathogenic	ClinVar	RCV001258850.1, VCV000979674.1	1

No genotype data were submitted for this variant

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