A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1034916



Internal ID15541416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:70401988..70484429hg38UCSC Ensembl
Innerchr5:69697815..69780256hg19UCSC Ensembl
Innerchr5:69733571..69816012hg18UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3882442
hg1982442
hg1882442
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598534
Supporting Variants
Samples
Known GenesGTF2H2B, GTF2H2C, GTF2H2D, SMA4, SMA5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1034916
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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