A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014595



Internal ID18757130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:53910446..54812727hg38UCSC Ensembl
Innerchr3:53944473..54846754hg19UCSC Ensembl
Innerchr3:53919513..54821794hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38902282
hg19902282
hg18902282
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3593376, nssv3593377
Samples
Known GenesCACNA2D3, ESRG
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014595
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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