A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1014246



Internal ID18756780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241841169..242084095hg38UCSC Ensembl
Innerchr2:242783321..243026246hg19UCSC Ensembl
Innerchr2:242431994..242674919hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38242927
hg19242926
hg18242926
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4200n100
Supporting Variantsnssv3587021, nssv3587022
Samples
Known GenesCXXC11, PDCD1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1014246
Frequency
Sample Size29084
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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