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dbVar

Database of genomic structural variation

nsv7095853

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:1,624,720

Description:NC_000002.11:g.(?_127451420)_(129076137_?)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: 4591 SVs from 101 studies. See in: genome view

Remapped(Score: Perfect):126,693,844-128,318,563

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7095853	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000002.12	Chr2	126,693,844	128,318,563
nsv7095853	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000002.11	Chr2	127,451,420	129,076,137

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18791192	deletion	Multiple	Multiple	not provided	Pathogenic	ClinVar	RCV003119332.2, VCV002422380.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18791192	Remapped	Perfect	NC_000002.12:g.(?_ 126693844)_(128318 563_?)del	GRCh38.p12	First Pass	NC_000002.12	Chr2	126,693,844	128,318,563
nssv18791192	Submitted genomic		NC_000002.11:g.(?_ 127451420)_(129076 137_?)del	GRCh37 (hg19)		NC_000002.11	Chr2	127,451,420	129,076,137

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
nssv18791192	GRCh37: NC_000002.11:g.(?_127451420)_(129076137_?)del	deletion	germline	not provided	Pathogenic	ClinVar	RCV003119332.2, VCV002422380.2

No genotype data were submitted for this variant

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