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dbVar

Database of genomic structural variation

nsv7097022

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:1,859,607

Description:NC_000005.9:g.(?_136957787)_(138861289_?)del AND STING-associated vasculopathy with onset in infancy

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: 5020 SVs from 93 studies. See in: genome view

Remapped(Score: Good):137,622,098-139,481,704

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7097022	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000005.10	Chr5	137,622,098	139,481,704
nsv7097022	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000005.9	Chr5	136,957,787	138,861,289

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18790312	deletion	Multiple	Multiple	STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI; STING-associated vasculopathy with onset in infancy; Sting-associated vasculopathy, infantile-onset	Uncertain significance	ClinVar	RCV003113978.2, VCV002427648.4

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18790312	Remapped	Good	NC_000005.10:g.(?_ 137622098)_(139481 704_?)del	GRCh38.p12	First Pass	NC_000005.10	Chr5	137,622,098	139,481,704
nssv18790312	Submitted genomic		NC_000005.9:g.(?_1 36957787)_(1388612 89_?)del	GRCh37 (hg19)		NC_000005.9	Chr5	136,957,787	138,861,289

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
nssv18790312	GRCh37: NC_000005.9:g.(?_136957787)_(138861289_?)del	deletion	germline	STING-ASSOCIATED VASCULOPATHY, INFANTILE-ONSET; SAVI; STING-associated vasculopathy with onset in infancy; Sting-associated vasculopathy, infantile-onset	Uncertain significance	ClinVar	RCV003113978.2, VCV002427648.4

No genotype data were submitted for this variant

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