A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597122



Internal ID16384531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:10563087..10565264hg38UCSC Ensembl
Innerchr5:10563199..10565376hg19UCSC Ensembl
Innerchr5:10616199..10618376hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg382178
hg192178
hg182178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1025215, nssv1025214
Samples
Known GenesANKRD33B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597122
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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