A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059320



Internal ID18801851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:37547292..37586005hg38UCSC Ensembl
Innerchr22:37943299..37982012hg19UCSC Ensembl
Innerchr22:36273245..36311958hg18UCSC Ensembl
Cytoband22q13.1
Allele length
AssemblyAllele length
hg3838714
hg1938714
hg1838714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600876
Samples
Known GenesCDC42EP1, LGALS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059320
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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