A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598215



Internal ID16385624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:56951292..56952278hg38UCSC Ensembl
Innerchr5:56247119..56248105hg19UCSC Ensembl
Innerchr5:56282876..56283862hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38987
hg19987
hg18987
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1030790, nssv1030791, nssv1030789
Samples
Known GenesMIER3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598215
Frequency
Sample Size17421
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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