A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598490



Internal ID16039213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69958474..71303173hg38UCSC Ensembl
Innerchr5:69254301..70599000hg19UCSC Ensembl
Innerchr5:69290057..70634756hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381344700
hg191344700
hg181344700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9838n54
Supporting Variantsnssv1034864
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)nsv598490
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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