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dbVar

Database of genomic structural variation

nsv491536

Organism: Homo sapiens

Study:nstd45 (ClinGen Curated Dosage Sensitivity Map-obsoleted)
Variant Type:copy number variation
Method Type:
Submitted on:GRCh37 (hg19)

Variant Calls:0
Validation:Not tested
Clinical Assertions: No
Region Size:3,403,176

Description:
17p11.2 recurrent (SMS/PLS) region (includes RAI1)
Publication(s):Potocki et al. 2007, Riggs et al. 2011, Zhang et al. 2010

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: 8446 SVs from 120 studies. See in: genome view

Remapped(Score: Perfect):16,906,714-20,309,889

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv491536	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000017.11	Chr17	16,906,714	20,309,889
nsv491536	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000017.10	Chr17	16,810,028	20,213,202

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184551	copy number loss	Curated	Curated	SMITH-MAGENIS SYNDROME; SMS	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv1184552	copy number gain	Curated	Curated	POTOCKI-LUPSKI SYNDROME; PTLS	Pathogenic	ClinGen Dosage Sensitivity Map	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv1184551	Remapped	Perfect	NC_000017.11:g.(?_ 16906714)_(2030988 9_?)del	GRCh38.p12	First Pass	NC_000017.11	Chr17	16,906,714	20,309,889
nssv1184552	Remapped	Perfect	NC_000017.11:g.(?_ 16906714)_(2030988 9_?)dup	GRCh38.p12	First Pass	NC_000017.11	Chr17	16,906,714	20,309,889
nssv1184551	Submitted genomic		NC_000017.10:g.(?_ 16810028)_(2021320 2_?)del	GRCh37 (hg19)		NC_000017.10	Chr17	16,810,028	20,213,202
nssv1184552	Submitted genomic		NC_000017.10:g.(?_ 16810028)_(2021320 2_?)dup	GRCh37 (hg19)		NC_000017.10	Chr17	16,810,028	20,213,202

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184551	GRCh37: NC_000017.10:g.(?_16810028)_(20213202_?)del	copy number loss	SMITH-MAGENIS SYNDROME; SMS	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv1184552	GRCh37: NC_000017.10:g.(?_16810028)_(20213202_?)dup	copy number gain	POTOCKI-LUPSKI SYNDROME; PTLS	Pathogenic	ClinGen Dosage Sensitivity Map	3

No genotype data were submitted for this variant

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