A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598499



Internal ID16039222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69983513..71041981hg38UCSC Ensembl
Innerchr5:69279340..70337808hg19UCSC Ensembl
Innerchr5:69315096..70373564hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg381058469
hg191058469
hg181058469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9845n54
Supporting Variantsnssv1034877
Samples
Known GenesGTF2H2, GTF2H2B, 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)nsv598499
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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