A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598496



Internal ID16039219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69983513..70972453hg38UCSC Ensembl
Innerchr5:69279340..70268280hg19UCSC Ensembl
Innerchr5:69315096..70304036hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38988941
hg19988941
hg18988941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9845n54
Supporting Variantsnssv1034872
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, GUSBP9, LOC441081, 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)nsv598496
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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