A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3731122



Internal ID19029403
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:54134728..54298294hg38UCSC Ensembl
Innerchr3:54168755..54332321hg19UCSC Ensembl
Innerchr3:54143795..54307361hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38163567
hg19163567
hg18163567
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1014157
Supporting Variants
Samples
Known GenesCACNA2D3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3731122
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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