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dbVar

Database of genomic structural variation

nsv7148254

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:11,238,367

Description:GRCh38/hg38 17p13.3-12(chr17:165730-11404096)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: 47644 SVs from 134 studies. See in: genome view

Submitted genomic165,730-11,404,096

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Start	Stop
nsv7148254	Submitted genomic		GRCh38 (hg38)	Primary Assembly		NC_000017.11	Chr17	165,730	11,404,096
nsv7148254	Remapped	Good	GRCh37.p13	Primary Assembly	First Pass	NC_000017.10	Chr17	396,627	11,307,413

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv18841908	copy number gain	Multiple	Multiple	17p13.3 microduplication syndrome; CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME; Chromosome 17p13.3, centromeric, duplication syndrome	Pathogenic	ClinVar	RCV003327726.2, VCV002579287.1	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Start	Stop
nssv18841908	Submitted genomic		NC_000017.11:g.165 730_11404096dup	GRCh38 (hg38)		NC_000017.11	Chr17	165,730	11,404,096
nssv18841908	Remapped	Good	NC_000017.10:g.396 627_11307413dup	GRCh37.p13	First Pass	NC_000017.10	Chr17	396,627	11,307,413

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
nssv18841908	GRCh38: NC_000017.11:g.165730_11404096dup	copy number gain	de novo	17p13.3 microduplication syndrome; CHROMOSOME 17p13.3, CENTROMERIC, DUPLICATION SYNDROME; Chromosome 17p13.3, centromeric, duplication syndrome	Pathogenic	ClinVar	RCV003327726.2, VCV002579287.1	3

No genotype data were submitted for this variant

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