A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3633213



Internal ID18584808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:154674..457840hg38UCSC Ensembl
Innerchr5:154789..457955hg19UCSC Ensembl
Innerchr5:207789..510955hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38303167
hg19303167
hg18303167
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1030767
Supporting Variants
Samples
Known GenesAHRR, C5orf55, CCDC127, EXOC3, LOC102467073, LRRC14B, PDCD6, PLEKHG4B, SDHA
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3633213
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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