A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521206



Internal ID15448499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:93923599..93925353hg38UCSC Ensembl
Innerchr14:94389945..94391699hg19UCSC Ensembl
Innerchr14:93459698..93461452hg18UCSC Ensembl
Innerchr14:93459698..93461452hg17UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg381755
hg191755
hg181755
hg171755
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697844
Samples
Known GenesFAM181A, FAM181A-AS1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv521206
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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