A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1047065



Internal ID18789596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87923196..87956225hg38UCSC Ensembl
Innerchr14:88389540..88422569hg19UCSC Ensembl
Innerchr14:87459293..87492322hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3833030
hg1933030
hg1833030
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3711372
Samples
Known GenesGALC
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1047065
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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