A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1024129



Internal ID16318085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:9100099..9280226hg38UCSC Ensembl
Innerchr5:9100211..9280338hg19UCSC Ensembl
Innerchr5:9153211..9333338hg18UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38180128
hg19180128
hg18180128
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597070
Supporting Variants
Samples
Known GenesSEMA5A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1024129
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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