A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3494514



Internal ID19082155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:227008801..227120715hg38UCSC Ensembl
Innerchr1:227196502..227308416hg19UCSC Ensembl
Innerchr1:225263125..225375039hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg38111915
hg19111915
hg18111915
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1011654
Supporting Variants
Samples
Known GenesCDC42BPA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3494514
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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