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dbVar

Database of genomic structural variation

nsv4682523

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:2,459

Description:NC_000008.11:g.(?_142911970)_(142914428_?)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: 131 SVs from 32 studies. See in: genome view

Remapped(Score: Perfect):142,911,970-142,914,428

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4682523	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000008.11	Chr8	142,911,970	142,914,428
nsv4682523	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000008.10	Chr8	143,993,386	143,995,844

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16213431	deletion	Multiple	Multiple	not provided	Likely pathogenic	ClinVar	RCV001031646.6, VCV000831056.6

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16213431	Remapped	Perfect	NC_000008.11:g.(?_ 142911970)_(142914 428_?)del	GRCh38.p12	First Pass	NC_000008.11	Chr8	142,911,970	142,914,428
nssv16213431	Submitted genomic		NC_000008.10:g.(?_ 143993386)_(143995 844_?)del	GRCh37 (hg19)		NC_000008.10	Chr8	143,993,386	143,995,844

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
nssv16213431	GRCh37: NC_000008.10:g.(?_143993386)_(143995844_?)del	deletion	germline	not provided	Likely pathogenic	ClinVar	RCV001031646.6, VCV000831056.6

No genotype data were submitted for this variant

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