A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3518397



Internal ID18469992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1840873..1876061hg38UCSC Ensembl
Innerchr12:1950039..1985227hg19UCSC Ensembl
Innerchr12:1820300..1855488hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3835189
hg1935189
hg1835189
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1051770
Supporting Variants
Samples
Known GenesCACNA2D4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3518397
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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