A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020633



Internal ID19109852
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116260580..116293826hg38UCSC Ensembl
Innerchr5:115596277..115629523hg19UCSC Ensembl
Innerchr5:115624176..115657422hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3833247
hg1933247
hg1833247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5792n100
Supporting Variantsnssv3647195, nssv3647202, nssv3647199, nssv3647191, nssv3647192, nssv3647193, nssv3647196, nssv3647189, nssv3647197, nssv3647194, nssv3647200, nssv3647201, nssv3647198, nssv3647190
Samples
Known GenesCOMMD10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020633
Frequency
Sample Size11257
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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