Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv7098915

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:263,201

Description:GRCh38/hg38 15q11.2(chr15:22787849-23051049) 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: 1968 SVs from 98 studies. See in: genome view

Submitted genomic22,787,849-23,051,049

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7098915	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000015.10	Chr15	22,787,849	23,051,049
nsv7098915	Remapped	Perfect	GRCh37.p13	Primary Assembly	First Pass	NC_000015.9	Chr15	22,822,019	23,085,219

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18792710	copy number loss	Multiple	Multiple	15q11.2 microdeletion syndrome; CHROMOSOME 15q11.2 DELETION SYNDROME; Chromosome 15q11.2 deletion syndrome	Uncertain significance	ClinVar	RCV003223559.2, VCV002499632.2

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18792710	Submitted genomic		NC_000015.10:g.(?_ 22787849)_(2305104 9_?)del	GRCh38 (hg38)		NC_000015.10	Chr15	22,787,849	23,051,049
nssv18792710	Remapped	Perfect	NC_000015.9:g.(?_2 2822019)_(23085219 _?)del	GRCh37.p13	First Pass	NC_000015.9	Chr15	22,822,019	23,085,219

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
nssv18792710	GRCh38: NC_000015.10:g.(?_22787849)_(23051049_?)del	copy number loss	unknown	15q11.2 microdeletion syndrome; CHROMOSOME 15q11.2 DELETION SYNDROME; Chromosome 15q11.2 deletion syndrome	Uncertain significance	ClinVar	RCV003223559.2, VCV002499632.2

No genotype data were submitted for this variant

You are here: NCBI