A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598621



Internal ID16039344
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:71060271..71143344hg38UCSC Ensembl
Innerchr5:70356098..70439171hg19UCSC Ensembl
Innerchr5:70391854..70474927hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3883074
hg1983074
hg1883074
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9872n54
Supporting Variantsnssv1035050
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598621
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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