A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1012673



Internal ID18755205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241841169..242092523hg38UCSC Ensembl
Innerchr2:242783321..243034674hg19UCSC Ensembl
Innerchr2:242431994..242683347hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38251355
hg19251354
hg18251354
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4200n100
Supporting Variantsnssv3587023, nssv3730135, nssv3587024, nssv3730136, nssv3587025, nssv3730137
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)nsv1012673
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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