A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041857



Internal ID18784388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:34615683..34947974hg38UCSC Ensembl
Innerchr14:35084889..35417180hg19UCSC Ensembl
Innerchr14:34154640..34486931hg18UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg38332292
hg19332292
hg18332292
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3528605
Samples
Known GenesBAZ1A, CFL2, IGBP1P1, SNX6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1041857
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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