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dbVar

Database of genomic structural variation

nsv5381271

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:46,283

Description:
NC_000019.9:g.(?_3762699)_(3808981_?)del 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: 299 SVs from 51 studies. See in: genome view

Remapped(Score: Perfect):3,762,701-3,808,983

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381271	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000019.10	Chr19	3,762,701	3,808,983
nsv5381271	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000019.9	Chr19	3,762,699	3,808,981

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867174	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001341196.6, VCV001037962.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867174	Remapped	Perfect	NC_000019.10:g.(?_ 3762701)_(3808983_ ?)del	GRCh38.p12	First Pass	NC_000019.10	Chr19	3,762,701	3,808,983
nssv16867174	Submitted genomic		NC_000019.9:g.(?_3 762699)_(3808981_? )del	GRCh37 (hg19)		NC_000019.9	Chr19	3,762,699	3,808,981

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
nssv16867174	GRCh37: NC_000019.9:g.(?_3762699)_(3808981_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001341196.6, VCV001037962.6

No genotype data were submitted for this variant

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