A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3731123



Internal ID18682718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:55040452..56437132hg38UCSC Ensembl
Innerchr3:55074479..56471160hg19UCSC Ensembl
Innerchr3:55049519..56446200hg18UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg381396681
hg191396682
hg181396682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1013405
Supporting Variants
Samples
Known GenesCACNA2D3, ERC2, ERC2-IT1, MIR3938, WNT5A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3731123
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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