A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv598318



Internal ID16385727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:61331130..61334076hg38UCSC Ensembl
Innerchr5:60626957..60629903hg19UCSC Ensembl
Innerchr5:60662714..60665660hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg382947
hg192947
hg182947
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1034200, nssv1034199, nssv1034201
Samples
Known GenesZSWIM6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv598318
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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