A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598216



Internal ID16385625
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 StatusM
Merged Variants
Supporting Variantsnssv1030793, nssv1030792
Samples
Known GenesMIER3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598216
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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