A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034940



Internal ID15541440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70942497..71166809hg38UCSC Ensembl
Innerchr5:70238324..70462636hg19UCSC Ensembl
Innerchr5:70274080..70498392hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38224313
hg19224313
hg18224313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598557
Supporting Variants
Samples
Known GenesGTF2H2, GTF2H2B, GTF2H2C, GTF2H2D, LOC647859, NAIP, SMN1, SMN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1034940
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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