A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033607



Internal ID18776140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:127049489..127968767hg38UCSC Ensembl
Innerchr5:126385181..127304459hg19UCSC Ensembl
Innerchr5:126413080..127332358hg18UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg38919279
hg19919279
hg18919279
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3648099
Samples
Known GenesC5orf63, CTXN3, MEGF10, PRRC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1033607
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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