A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048623



Internal ID19137842
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:48278315..48391504hg38UCSC Ensembl
Innerchr14:48747518..48860707hg19UCSC Ensembl
Innerchr14:47817268..47930457hg18UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38113190
hg19113190
hg18113190
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1917n100
Supporting Variantsnssv3530993
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)nsv1048623
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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