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dbVar

Database of genomic structural variation

nsv6315475

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:3,635,608

Description:GRCh37/hg19 17p11.2(chr17:16651292-20286898) AND Smith-Magenis syndrome
Publication(s):Schaefer et al. 2013, Smith et al. 2001

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: 10236 SVs from 129 studies. See in: genome view

Remapped(Score: Perfect):16,747,978-20,383,585

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv6315475	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	16,747,978	20,383,585
nsv6315475	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	16,651,292	20,286,898

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv17976984	copy number loss	Multiple	Multiple	SMITH-MAGENIS SYNDROME; SMS; Smith-Magenis Syndrome; Smith-Magenis syndrome; Smith-Magenis syndrome	Pathogenic	ClinVar	RCV002280651.1, VCV001703565.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv17976984	Remapped	Perfect	NC_000017.11:g.(?_ 16747978)_(2038358 5_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	16,747,978	20,383,585
nssv17976984	Submitted genomic		NC_000017.10:g.(?_ 16651292)_(2028689 8_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	16,651,292	20,286,898

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
nssv17976984	GRCh37: NC_000017.10:g.(?_16651292)_(20286898_?)del	copy number loss	unknown	SMITH-MAGENIS SYNDROME; SMS; Smith-Magenis Syndrome; Smith-Magenis syndrome; Smith-Magenis syndrome	Pathogenic	ClinVar	RCV002280651.1, VCV001703565.1

No genotype data were submitted for this variant

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