A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048882



Internal ID19138101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69454164..69509977hg38UCSC Ensembl
Innerchr14:69920881..69976694hg19UCSC Ensembl
Innerchr14:68990634..69046447hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3855814
hg1955814
hg1855814
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1930n100
Supporting Variantsnssv3531108, nssv3713518
Samples
Known GenesPLEKHD1, SLC39A9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048882
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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