A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1030792



Internal ID15883978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56951343..56951840hg38UCSC Ensembl
Innerchr5:56247170..56247667hg19UCSC Ensembl
Innerchr5:56282927..56283424hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38498
hg19498
hg18498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv598216
Supporting Variants
Samples
Known GenesMIER3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1030792
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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