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dbVar

Database of genomic structural variation

nsv4436837

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:delins
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:63,411

Description:NC_000014.9:g.88362113_88425523delinsTGG AND Retinitis pigmentosa, juvenile

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: 242 SVs from 54 studies. See in: genome view

Submitted genomic88,362,113-88,425,523

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4436837	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000014.9	Chr14	88,362,113	88,425,523
nsv4436837	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000014.8	Chr14	88,828,457	88,891,867

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv15754981	delins	Multiple	Multiple	Retinitis pigmentosa, juvenile	Pathogenic	ClinVar	RCV000786017.1, VCV000635162.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv15754981	Submitted genomic		NC_000014.9:g.8836 2113_88425523delin sTGG	GRCh38 (hg38)		NC_000014.9	Chr14	88,362,113	88,425,523
nssv15754981	Remapped	Perfect	NC_000014.8:g.8882 8457_88891867delin sTGG	GRCh37.p13	First Pass	NC_000014.8	Chr14	88,828,457	88,891,867

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
nssv15754981	GRCh38: NC_000014.9:g.88362113_88425523delinsTGG	delins	inherited	Retinitis pigmentosa, juvenile	Pathogenic	ClinVar	RCV000786017.1, VCV000635162.1

No genotype data were submitted for this variant

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