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dbVar

Database of genomic structural variation

nsv6309141

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:522,908

Description:NC_000010.10:g.(?_134916201)_(135439108_?)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: 5180 SVs from 119 studies. See in: genome view

Remapped(Score: Perfect):133,102,697-133,625,604

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6309141	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000010.11	Chr10	133,102,697	133,625,604
nsv6309141	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000010.10	Chr10	134,916,201	135,439,108

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17972270	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV001972520.3, VCV001456992.3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17972270	Remapped	Perfect	NC_000010.11:g.(?_ 133102697)_(133625 604_?)del	GRCh38.p12	First Pass	NC_000010.11	Chr10	133,102,697	133,625,604
nssv17972270	Submitted genomic		NC_000010.10:g.(?_ 134916201)_(135439 108_?)del	GRCh37 (hg19)		NC_000010.10	Chr10	134,916,201	135,439,108

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
nssv17972270	GRCh37: NC_000010.10:g.(?_134916201)_(135439108_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV001972520.3, VCV001456992.3

No genotype data were submitted for this variant

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