A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564642



Internal ID16005365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:43382442..44942877hg38UCSC Ensembl
Innerchr14:43851645..45412080hg19UCSC Ensembl
Innerchr14:42921395..44481830hg18UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg381560436
hg191560436
hg181560436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv827529
Samples
Known GenesC14orf28, FSCB, KLHL28
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564642
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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