A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598487



Internal ID16039210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69958474..71003941hg38UCSC Ensembl
Innerchr5:69254301..70299768hg19UCSC Ensembl
Innerchr5:69290057..70335524hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381045468
hg191045468
hg181045468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9845n54
Supporting Variantsnssv1034860
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)nsv598487
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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