A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997445



Internal ID18810295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:23357900..24374347hg38UCSC Ensembl
Innerchr2:23580771..24597216hg19UCSC Ensembl
Innerchr2:23434276..24450720hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381016448
hg191016446
hg181016445
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3727963
Samples
Known GenesATAD2B, C2orf44, FAM228A, FAM228B, FKBP1B, ITSN2, KLHL29, MFSD2B, PFN4, SF3B14, TP53I3, UBXN2A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997445
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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