A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1029374



Internal ID15535874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:44740887..44810638hg38UCSC Ensembl
Innerchr5:44740989..44810740hg19UCSC Ensembl
Innerchr5:44776746..44846497hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3869752
hg1969752
hg1869752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv597933
Supporting Variants
Samples
Known GenesMRPS30
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1029374
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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