A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044967



Internal ID18787498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:103488390..103540714hg38UCSC Ensembl
Innerchr14:103954727..104007051hg19UCSC Ensembl
Innerchr14:103024480..103076804hg18UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg3852325
hg1952325
hg1852325
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3533561
Samples
Known GenesCKB, MARK3, TRMT61A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044967
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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