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dbVar

Database of genomic structural variation

nsv4685767

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:730,336

Description:GRCh38/hg38 17p13.3(chr17:1113701-1844036)x3 AND Chromosome 17p13.3 duplication 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: 4981 SVs from 95 studies. See in: genome view

Submitted genomic1,113,701-1,844,036

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv4685767	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	1,113,701	1,844,036
nsv4685767	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	1,016,941	1,747,330

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16216566	copy number gain	Multiple	Multiple	17p13.3 microduplication syndrome; CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME; Chromosome 17p13.3, centromeric, duplication syndrome	Pathogenic	ClinVar	RCV001199954.1, VCV000932228.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv16216566	Submitted genomic		NC_000017.11:g.111 3701_1844036dup	GRCh38 (hg38)		NC_000017.11	Chr17	1,113,701	1,844,036
nssv16216566	Remapped	Good	NC_000017.10:g.101 6941_1747330dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	1,016,941	1,747,330

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
nssv16216566	GRCh38: NC_000017.11:g.1113701_1844036dup	copy number gain	maternal	17p13.3 microduplication syndrome; CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME; Chromosome 17p13.3, centromeric, duplication syndrome	Pathogenic	ClinVar	RCV001199954.1, VCV000932228.1	3

No genotype data were submitted for this variant

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