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dbVar

Database of genomic structural variation

nsv491531

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:4,815,015

Description:
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1)
Publication(s):Christian et al. 1995, Christian et al. 2008, Cook et al. 1997, Jacquemont et al. 2006, Kim et al. 2012, Riggs et al. 2011

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: 14993 SVs from 125 studies. See in: genome view

Remapped(Score: Pass):23,319,714-28,134,728

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv491531	Remapped	Pass	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	23,319,714	28,134,728
nsv491531	Remapped	Pass	GRCh38.p12	PATCHES	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	1	4,542,614
nsv491531	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	22,832,519	28,379,874

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184533	copy number loss	Curated	Curated	ANGELMAN SYNDROME; AS	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv1184534	copy number loss	Curated	Curated	PRADER-WILLI SYNDROME; PWS	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv3442743	copy number gain	Curated	Curated	CHROMOSOME 15q11-q13 DUPLICATION SYNDROME	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
nssv1184533	Remapped	Pass	NW_011332701.1:g.( ?_1)_(4542614_?)de l	GRCh38.p12	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	1	4,542,614
nssv1184534	Remapped	Pass	NW_011332701.1:g.( ?_1)_(4542614_?)de l	GRCh38.p12	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	1	4,542,614
nssv3442743	Remapped	Pass	NW_011332701.1:g.( ?_1)_(4542614_?)du p	GRCh38.p12	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	1	4,542,614
nssv1184533	Remapped	Pass	NC_000015.10:g.(?_ 23319714)_(2813472 8_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	23,319,714	28,134,728
nssv1184534	Remapped	Pass	NC_000015.10:g.(?_ 23319714)_(2813472 8_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	23,319,714	28,134,728
nssv3442743	Remapped	Pass	NC_000015.10:g.(?_ 23319714)_(2813472 8_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	23,319,714	28,134,728
nssv1184533	Submitted genomic		NC_000015.9:g.(?_2 2832519)_(28379874 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	22,832,519	28,379,874
nssv1184534	Submitted genomic		NC_000015.9:g.(?_2 2832519)_(28379874 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	22,832,519	28,379,874
nssv3442743	Submitted genomic		NC_000015.9:g.(?_2 2832519)_(28379874 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	22,832,519	28,379,874

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Allele Origin	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv1184533	GRCh37: NC_000015.9:g.(?_22832519)_(28379874_?)del	copy number loss	maternal	ANGELMAN SYNDROME; AS	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv1184534	GRCh37: NC_000015.9:g.(?_22832519)_(28379874_?)del	copy number loss	paternal	PRADER-WILLI SYNDROME; PWS	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv3442743	GRCh37: NC_000015.9:g.(?_22832519)_(28379874_?)dup	copy number gain	maternal	CHROMOSOME 15q11-q13 DUPLICATION SYNDROME	Pathogenic	ClinGen Dosage Sensitivity Map	3

No genotype data were submitted for this variant

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