Warning: The NCBI web site requires JavaScript to function. more...

dbVar

Database of genomic structural variation

nsv4578260

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:261,781

Description:GRCh37/hg19 15q13.3(chr15:32157104-32418879)x3 AND Intellectual disability
Publication(s):Manickam et al. 2021, Michelson et al. 2011, Moeschler et al. 2014, Shao et al. 2021

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: 1278 SVs from 104 studies. See in: genome view

Remapped(Score: Good):31,864,901-32,126,678

Variant Region Placement Information

Variant Region ID	Placement Type	Score	Assembly	Assembly Unit	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nsv4578260	Remapped	Good	GRCh38.p12	Primary Assembly	First Pass	NC_000015.10	Chr15	31,864,901	32,126,678
nsv4578260	Remapped	Good	GRCh38.p12	ALT_REF_LOCI_2	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	4,150,040	4,411,820
nsv4578260	Remapped	Good	GRCh38.p12	PATCHES	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	4,037,588	4,299,368
nsv4578260	Submitted genomic		GRCh37 (hg19)	Primary Assembly		NC_000015.9	Chr15	32,157,104	32,418,879

Variant Call Information

Variant Call ID	Type	Method	Analysis	Subject Phenotype	Clinical Interpretation	Source of Interpretation	ClinVar ID	Copy number
nssv16091752	copy number gain	Multiple	Multiple	Intellectual Disability; Intellectual disability; Intellectual disability	risk factor	ClinVar	RCV000856648.4, VCV000666450.3	3

Variant Call Placement Information

Variant Call ID	Placement Type	Score	HGVS	Assembly	Reciprocity	Sequence ID	Chr	Inner Start	Inner Stop
nssv16091752	Remapped	Good	NT_187660.1:g.(?_4 150040)_(4411820_? )dup	GRCh38.p12	Second Pass	NT_187660.1	Chr15\|NT_1 87660.1	4,150,040	4,411,820
nssv16091752	Remapped	Good	NW_011332701.1:g.( ?_4037588)_(429936 8_?)dup	GRCh38.p12	Second Pass	NW_011332701.1	Chr15\|NW_0 11332701.1	4,037,588	4,299,368
nssv16091752	Remapped	Good	NC_000015.10:g.(?_ 31864901)_(3212667 8_?)dup	GRCh38.p12	First Pass	NC_000015.10	Chr15	31,864,901	32,126,678
nssv16091752	Submitted genomic		NC_000015.9:g.(?_3 2157104)_(32418879 _?)dup	GRCh37 (hg19)		NC_000015.9	Chr15	32,157,104	32,418,879

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	Copy number
nssv16091752	GRCh37: NC_000015.9:g.(?_32157104)_(32418879_?)dup	copy number gain	maternal	Intellectual Disability; Intellectual disability; Intellectual disability	risk factor	ClinVar	RCV000856648.4, VCV000666450.3	3

No genotype data were submitted for this variant

You are here: NCBI