A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3587005



Internal ID18538600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241793613..242017881hg38UCSC Ensembl
Innerchr2:242733028..242960032hg19UCSC Ensembl
Innerchr2:242381701..242608705hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38224269
hg19227005
hg18227005
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1007423
Supporting Variants
Samples
Known GenesCXXC11, GAL3ST2, NEU4, PDCD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3587005
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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