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dbVar

Database of genomic structural variation

nsv7148087

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:502,164

Description:GRCh37/hg19 15q11.2(chr15:22744149-23246340)x1 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: 2825 SVs from 106 studies. See in: genome view

Remapped(Score: Good):22,626,756-23,128,919

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7148087	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	22,626,756	23,128,919
nsv7148087	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	22,744,149	23,246,340

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18842037	copy number loss	Multiple	Multiple	15q11.2 microdeletion syndrome; CHROMOSOME 15q11.2 DELETION SYNDROME; Chromosome 15q11.2 deletion syndrome	Pathogenic	ClinVar	RCV003329532.1, VCV002580327.1	1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18842037	Remapped	Good	NC_000015.10:g.(?_ 22626756)_(2312891 9_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	22,626,756	23,128,919
nssv18842037	Submitted genomic		NC_000015.9:g.(?_2 2744149)_(23246340 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	22,744,149	23,246,340

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	Copy number
nssv18842037	GRCh37: NC_000015.9:g.(?_22744149)_(23246340_?)del	copy number loss	unknown	15q11.2 microdeletion syndrome; CHROMOSOME 15q11.2 DELETION SYNDROME; Chromosome 15q11.2 deletion syndrome	Pathogenic	ClinVar	RCV003329532.1, VCV002580327.1	1

No genotype data were submitted for this variant

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