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dbVar

Database of genomic structural variation

nsv7137100

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:4,881,890

Description:GRCh37/hg19 15q11.2-13.1(chr15:23684691-28566579) AND 15q11q13 microduplication syndrome
Publication(s):Finucane et al. 2016

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: 17385 SVs from 132 studies. See in: genome view

Remapped(Score: Perfect):23,439,544-28,321,433

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv7137100	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	23,439,544	28,321,433
nsv7137100	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	23,684,691	28,566,579

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv18830734	copy number gain	Multiple	Multiple	15q Duplication Syndrome and Related Disorders; 15q11q13 microduplication syndrome; CHROMOSOME 15q11-q13 DUPLICATION SYNDROME; Chromosome 15q11-q13 duplication syndrome	Pathogenic	ClinVar	RCV003236743.1, VCV002506559.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv18830734	Remapped	Perfect	NC_000015.10:g.(?_ 23439544)_(2832143 3_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	23,439,544	28,321,433
nssv18830734	Submitted genomic		NC_000015.9:g.(?_2 3684691)_(28566579 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	23,684,691	28,566,579

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
nssv18830734	GRCh37: NC_000015.9:g.(?_23684691)_(28566579_?)dup	copy number gain	germline	15q Duplication Syndrome and Related Disorders; 15q11q13 microduplication syndrome; CHROMOSOME 15q11-q13 DUPLICATION SYNDROME; Chromosome 15q11-q13 duplication syndrome	Pathogenic	ClinVar	RCV003236743.1, VCV002506559.1

No genotype data were submitted for this variant

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