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dbVar

Database of genomic structural variation

nsv4457373

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:187,320

Description:GRCh37/hg19 20q13.11-13.12(chr20:42087848-42275167)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: 718 SVs from 67 studies. See in: genome view

Remapped(Score: Perfect):43,459,208-43,646,527

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4457373	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	43,459,208	43,646,527
nsv4457373	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	42,087,848	42,275,167

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv15775934	copy number loss	Multiple	Multiple	not provided	Uncertain significance	ClinVar	RCV000848260.2, VCV000687561.2	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv15775934	Remapped	Perfect	NC_000020.11:g.(?_ 43459208)_(4364652 7_?)del	GRCh38.p12	First Pass	NC_000020.11	Chr20	43,459,208	43,646,527
nssv15775934	Submitted genomic		NC_000020.10:g.(?_ 42087848)_(4227516 7_?)del	GRCh37 (hg19)		NC_000020.10	Chr20	42,087,848	42,275,167

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
nssv15775934	GRCh37: NC_000020.10:g.(?_42087848)_(42275167_?)del	copy number loss	unknown	not provided	Uncertain significance	ClinVar	RCV000848260.2, VCV000687561.2	1

No genotype data were submitted for this variant

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