A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1043285



Internal ID15549785
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 StatusS
Merged Variantsnsv599960
Supporting Variants
Samples
Known GenesMYOZ3, SYNPO
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1043285
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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