A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014881



Internal ID18757416
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:197432432..197668882hg38UCSC Ensembl
Innerchr2:198297156..198533606hg19UCSC Ensembl
Innerchr2:198005401..198241851hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38236451
hg19236451
hg18236451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3583990
Samples
Known GenesCOQ10B, HSPD1, HSPE1, HSPE1-MOB4, MOB4, RFTN2, SF3B1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014881
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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