A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598212



Internal ID16385621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56951292..56951840hg38UCSC Ensembl
Innerchr5:56247119..56247667hg19UCSC Ensembl
Innerchr5:56282876..56283424hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38549
hg19549
hg18549
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9793n54
Supporting Variantsnssv1030782, nssv1030783
Samples
Known GenesMIER3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598212
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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