A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1000193



Internal ID18742724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241830506..242092201hg38UCSC Ensembl
Innerchr2:242772683..243034352hg19UCSC Ensembl
Innerchr2:242421356..242683025hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38261696
hg19261670
hg18261670
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4200n100
Supporting Variantsnssv3587017
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)nsv1000193
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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