A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv599960



Internal ID16040683
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150636553..150685982hg38UCSC Ensembl
Innerchr5:150016115..150065544hg19UCSC Ensembl
Innerchr5:149996308..150045737hg18UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3849430
hg1949430
hg1849430
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1043285
Samples
Known GenesMYOZ3, SYNPO
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv599960
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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