A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1052107



Internal ID19141326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:69455835..69502580hg38UCSC Ensembl
Innerchr14:69922552..69969297hg19UCSC Ensembl
Innerchr14:68992305..69039050hg18UCSC Ensembl
Cytoband14q24.1
Allele length
AssemblyAllele length
hg3846746
hg1946746
hg1846746
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1930n100
Supporting Variantsnssv3531109
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)nsv1052107
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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