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dbVar

Database of genomic structural variation

nsv7098836

Organism: Homo sapiens

Study:nstd102 (Clinical Structural Variants)
Variant Type:copy number variation
Method Type:Multiple
Submitted on:GRCh38

Variant Calls:1
Validation:Not tested
Clinical Assertions: Yes
Region Size:682,807

Description:NC_000015.10:g.22698177_(23120963_23380983)del
AND Chromosome 15q11.2 deletion syndrome

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: 3280 SVs from 112 studies. See in: genome view

Submitted genomic22,698,177-23,380,983

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Inner Stop	Outer Stop
nsv7098836	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	22,698,177	23,120,963	23,380,983
nsv7098836	Remapped	Pass	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	22,646,194	23,174,919	-

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792767	deletion	Multiple	Multiple	15q11.2 microdeletion syndrome; CHROMOSOME 15q11.2 DELETION SYNDROME; Chromosome 15q11.2 deletion syndrome	Pathogenic	ClinVar	RCV003221323.1, VCV002498204.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Inner Stop	Outer Stop
nssv18792767	Submitted genomic		NC_000015.10:g.226 98177_(23120963_23 380983)del	GRCh38 (hg38)		NC_000015.10	Chr15	22,698,177	23,120,963	23,380,983
nssv18792767	Remapped	Pass	NC_000015.9:g.2264 6194_(23174919_?)d el	GRCh37.p13	First Pass	NC_000015.9	Chr15	22,646,194	23,174,919	-

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
nssv18792767	GRCh38: NC_000015.10:g.22698177_(23120963_23380983)del	deletion	inherited	15q11.2 microdeletion syndrome; CHROMOSOME 15q11.2 DELETION SYNDROME; Chromosome 15q11.2 deletion syndrome	Pathogenic	ClinVar	RCV003221323.1, VCV002498204.1

No genotype data were submitted for this variant

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