A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv597977



Internal ID16385386
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:45321306..45409798hg38UCSC Ensembl
Innerchr5:45321408..45409900hg19UCSC Ensembl
Innerchr5:45357165..45445657hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3888493
hg1988493
hg1888493
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9747n54
Supporting Variantsnssv1029661
Samples
Known GenesHCN1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv597977
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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