A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1028658



Internal ID18771189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:137002..232597hg38UCSC Ensembl
Innerchr5:137117..232712hg19UCSC Ensembl
Innerchr5:190117..285712hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3895596
hg1995596
hg1895596
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3633212
Samples
Known GenesCCDC127, LRRC14B, 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)nsv1028658
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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