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dbVar

Database of genomic structural variation

nsv3319010

Organism: Homo sapiens

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

Variant Calls:2
Validation:Not tested
Clinical Assertions: Yes
Region Size:425,805

Description:15q13.3 recurrent region (D-CHRNA7 to BP5) (includes CHRNA7 and OTUD7A)
Publication(s):Hoppman-Chaney et al. 2013, Masurel-Paulet et al. 2010, Riggs et al. 2011, Shinawi et al. 2009, Williams et al. 2012, Zhou et al. 2016

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: 1671 SVs from 99 studies. See in: genome view

Remapped(Score: Perfect):31,727,418-32,153,204

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv3319010	Remapped	Perfect	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	31,727,418	32,153,204
nsv3319010	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	4,012,554	4,438,358
nsv3319010	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	3,900,102	4,325,906
nsv3319010	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	32,019,621	32,445,405

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv14472023	copy number loss	Curated	Curated	complex neurodevelopmental disorder	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv14472024	copy number gain	Curated	Curated	No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms	Benign	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
nssv14472023	Remapped	Good	NT_187660.1:g.(?_4 012554)_(4438358_? )del	GRCh38.p12	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	4,012,554	4,438,358
nssv14472024	Remapped	Good	NT_187660.1:g.(?_4 012554)_(4438358_? )dup	GRCh38.p12	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	4,012,554	4,438,358
nssv14472023	Remapped	Good	NW_011332701.1:g.( ?_3900102)_(432590 6_?)del	GRCh38.p12	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	3,900,102	4,325,906
nssv14472024	Remapped	Good	NW_011332701.1:g.( ?_3900102)_(432590 6_?)dup	GRCh38.p12	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	3,900,102	4,325,906
nssv14472023	Remapped	Perfect	NC_000015.10:g.(?_ 31727418)_(3215320 4_?)del	GRCh38.p12	First Pass	NC_000015.10	Chr15	31,727,418	32,153,204
nssv14472024	Remapped	Perfect	NC_000015.10:g.(?_ 31727418)_(3215320 4_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	31,727,418	32,153,204
nssv14472023	Submitted genomic		NC_000015.9:g.(?_3 2019621)_(32445405 _?)del	GRCh37 (hg19)		NC_000015.9	Chr15	32,019,621	32,445,405
nssv14472024	Submitted genomic		NC_000015.9:g.(?_3 2019621)_(32445405 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	32,019,621	32,445,405

No validation data were submitted for this variant

Clinical Assertions

Variant Call ID	HGVS	Type	Subject Phenotype	Clinical Interpretation	Source of Interpretation	Copy number
nssv14472023	GRCh37: NC_000015.9:g.(?_32019621)_(32445405_?)del	copy number loss	complex neurodevelopmental disorder	Pathogenic	ClinGen Dosage Sensitivity Map	1
nssv14472024	GRCh37: NC_000015.9:g.(?_32019621)_(32445405_?)dup	copy number gain	No demonstrable phenotype expected - however variants at this locus may cause disease by other mechanisms	Benign	ClinGen Dosage Sensitivity Map	3

No genotype data were submitted for this variant

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