A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1005357



Internal ID18747888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:32418369..33106699hg38UCSC Ensembl
Innerchr2:32643437..33331766hg19UCSC Ensembl
Innerchr2:32496941..33185270hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38688331
hg19688330
hg18688330
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3749n100
Supporting Variantsnssv3579174, nssv3579173
Samples
Known GenesBIRC6, LINC00486, LOC100271832, LTBP1, MIR4765, MIR558, TTC27
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1005357
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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