A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046279



Internal ID19135498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:44712945..44757644hg38UCSC Ensembl
Innerchr14:45182148..45226847hg19UCSC Ensembl
Innerchr14:44251898..44296597hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3844700
hg1944700
hg1844700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1903n100
Supporting Variantsnssv3530425, nssv3530424
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046279
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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