A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046422



Internal ID18788953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:57198718..58129812hg38UCSC Ensembl
Innerchr14:57665436..58596530hg19UCSC Ensembl
Innerchr14:56735189..57666283hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38931095
hg19931095
hg18931095
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3531038
Samples
Known GenesAP5M1, C14orf105, C14orf37, EXOC5, NAA30, SLC35F4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046422
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer