A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3593376



Internal ID18544971
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 StatusS
Merged Variantsnsv1014595
Supporting Variants
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)nssv3593376
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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