A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598523



Internal ID16039246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70297886..70510284hg38UCSC Ensembl
Innerchr5:69593713..69806111hg19UCSC Ensembl
Innerchr5:69629469..69841867hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38212399
hg19212399
hg18212399
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034904
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, LOC441081, SMA4, SMA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598523
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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