A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598227



Internal ID16385636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56951598..56952278hg38UCSC Ensembl
Innerchr5:56247425..56248105hg19UCSC Ensembl
Innerchr5:56283182..56283862hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38681
hg19681
hg18681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9795n54
Supporting Variantsnssv1030818
Samples
Known GenesMIER3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598227
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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