A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv997249



Internal ID18810099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241841232..242092523hg38UCSC Ensembl
Innerchr2:242783384..243034674hg19UCSC Ensembl
Innerchr2:242432057..242683347hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38251292
hg19251291
hg18251291
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4200n100
Supporting Variantsnssv3587026
Samples
Known GenesCXXC11, LOC728323, PDCD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv997249
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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