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dbVar

Database of genomic structural variation

nsv7093716

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:279,748

Description:NC_000010.10:g.(?_55826507)_(56106254_?)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: 1065 SVs from 81 studies. See in: genome view

Remapped(Score: Perfect):54,066,747-54,346,494

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7093716	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	54,066,747	54,346,494
nsv7093716	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	55,826,507	56,106,254

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18787920	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003122938.2, VCV002427104.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18787920	Remapped	Perfect	NC_000010.11:g.(?_ 54066747)_(5434649 4_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	54,066,747	54,346,494
nssv18787920	Submitted genomic		NC_000010.10:g.(?_ 55826507)_(5610625 4_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	55,826,507	56,106,254

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
nssv18787920	GRCh37: NC_000010.10:g.(?_55826507)_(56106254_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003122938.2, VCV002427104.2

No genotype data were submitted for this variant

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