A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017500



Internal ID18760034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:122899012..123100052hg38UCSC Ensembl
Innerchr5:122234707..122435747hg19UCSC Ensembl
Innerchr5:122262606..122463646hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38201041
hg19201041
hg18201041
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3746630
Samples
Known GenesPPIC, PRDM6, SNX24
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017500
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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