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dbVar

Database of genomic structural variation

nsv5381797

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:2,992,584

Description:GRCh37/hg19 17p11.2(chr17:17145361-20137943) 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: 8597 SVs from 125 studies. See in: genome view

Remapped(Score: Perfect):17,242,047-20,234,630

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv5381797	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	17,242,047	20,234,630
nsv5381797	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	17,145,361	20,137,943

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID
nssv16867364	copy number loss	Multiple	Multiple	SMITH-MAGENIS SYNDROME; SMS; Smith-Magenis Syndrome; Smith-Magenis syndrome; Smith-Magenis syndrome	Pathogenic	ClinVar	RCV001352632.1, VCV001047863.1

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16867364	Remapped	Perfect	NC_000017.11:g.(?_ 17242047)_(2023463 0_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	17,242,047	20,234,630
nssv16867364	Submitted genomic		NC_000017.10:g.(?_ 17145361)_(2013794 3_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	17,145,361	20,137,943

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
nssv16867364	GRCh37: NC_000017.10:g.(?_17145361)_(20137943_?)del	copy number loss	de novo	SMITH-MAGENIS SYNDROME; SMS; Smith-Magenis Syndrome; Smith-Magenis syndrome; Smith-Magenis syndrome	Pathogenic	ClinVar	RCV001352632.1, VCV001047863.1

No genotype data were submitted for this variant

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