A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599396



Internal ID16386805
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:113073247..113517492hg38UCSC Ensembl
Innerchr5:112408944..112853189hg19UCSC Ensembl
Innerchr5:112436843..112881088hg18UCSC Ensembl
Cytoband5q22.2
Allele length
AssemblyAllele length
hg38444246
hg19444246
hg18444246
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040383
Samples
Known GenesMCC, TSSK1B, YTHDC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599396
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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