A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598537



Internal ID16039260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70409888..70422868hg38UCSC Ensembl
Innerchr5:69705715..69718695hg19UCSC Ensembl
Innerchr5:69741471..69754451hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3812981
hg1912981
hg1812981
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034919
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598537
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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