A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034696



Internal ID15541196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:69569207..69590376hg38UCSC Ensembl
Innerchr5:68865034..68886203hg19UCSC Ensembl
Innerchr5:68900790..68921959hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3821170
hg1921170
hg1821170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598459
Supporting Variants
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, SMA4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1034696
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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