A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597974



Internal ID16385383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45300933..45456975hg38UCSC Ensembl
Innerchr5:45301035..45457077hg19UCSC Ensembl
Innerchr5:45336792..45492834hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38156043
hg19156043
hg18156043
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9746n54
Supporting Variantsnssv1029659, nssv1029658
Samples
Known GenesHCN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597974
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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