A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598488



Internal ID16039211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69958474..71189369hg38UCSC Ensembl
Innerchr5:69254301..70485196hg19UCSC Ensembl
Innerchr5:69290057..70520952hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381230896
hg191230896
hg181230896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9838n54
Supporting Variantsnssv1034861
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, LOC647859, NAIP, SERF1A, SERF1B, SMA4, SMA5, SMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598488
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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