A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046178



Internal ID18788709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:88712120..88982957hg38UCSC Ensembl
Innerchr14:89178464..89449301hg19UCSC Ensembl
Innerchr14:88248217..88519054hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg38270838
hg19270838
hg18270838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1955n100
Supporting Variantsnssv3532577
Samples
Known GenesEML5, TTC8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046178
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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