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dbVar

Database of genomic structural variation

nsv7096075

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:5,633

Description:NC_000020.10:g.(?_35521335)_(35526967_?)dup AND Aicardi-Goutieres syndrome 5
Publication(s):Crow et al. 2005

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: 165 SVs from 39 studies. See in: genome view

Remapped(Score: Perfect):36,892,932-36,898,564

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7096075	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000020.11	Chr20	36,892,932	36,898,564
nsv7096075	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000020.10	Chr20	35,521,335	35,526,967

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18786760	duplication	Multiple	Multiple	AICARDI-GOUTIERES SYNDROME 5; AGS5; Aicardi Goutieres syndrome 5; Aicardi-Goutières Syndrome; Aicardi-Goutières syndrome	Uncertain significance	ClinVar	RCV003119607.2, VCV002426169.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18786760	Remapped	Perfect	NC_000020.11:g.(?_ 36892932)_(3689856 4_?)dup	GRCh38.p12	First Pass	NC_000020.11	Chr20	36,892,932	36,898,564
nssv18786760	Submitted genomic		NC_000020.10:g.(?_ 35521335)_(3552696 7_?)dup	GRCh37 (hg19)		NC_000020.10	Chr20	35,521,335	35,526,967

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
nssv18786760	GRCh37: NC_000020.10:g.(?_35521335)_(35526967_?)dup	duplication	germline	AICARDI-GOUTIERES SYNDROME 5; AGS5; Aicardi Goutieres syndrome 5; Aicardi-Goutières Syndrome; Aicardi-Goutières syndrome	Uncertain significance	ClinVar	RCV003119607.2, VCV002426169.2

No genotype data were submitted for this variant

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