A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1046924



Internal ID18789455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:90947458..91371146hg38UCSC Ensembl
Innerchr14:91413802..91837490hg19UCSC Ensembl
Innerchr14:90483555..90907243hg18UCSC Ensembl
Cytoband14q32.11
Allele length
AssemblyAllele length
hg38423689
hg19423689
hg18423689
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3532581
Samples
Known GenesC14orf159, CCDC88C, GPR68, RPS6KA5, SNORA11B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1046924
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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