A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997725



Internal ID18810575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:24052436..25123406hg38UCSC Ensembl
Innerchr2:24275306..25346275hg19UCSC Ensembl
Innerchr2:24128810..25199779hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381070971
hg191070970
hg181070970
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3579019
Samples
Known GenesADCY3, CENPO, DNAJC27, DNAJC27-AS1, EFR3B, FAM228A, FAM228B, FKBP1B, ITSN2, NCOA1, PFN4, PTRHD1, SF3B14, TP53I3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997725
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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