A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005290



Internal ID18747821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:247092..949319hg38UCSC Ensembl
Innerchr3:288775..991003hg19UCSC Ensembl
Innerchr3:263775..966003hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38702228
hg19702229
hg18702229
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3590273
Samples
Known GenesCHL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005290
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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