A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047750



Internal ID19136969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:56707950..56731228hg38UCSC Ensembl
Innerchr14:57174668..57197946hg19UCSC Ensembl
Innerchr14:56244421..56267699hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3823279
hg1923279
hg1823279
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1923n100
Supporting Variantsnssv3713495
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)nsv1047750
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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