A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv563847



Internal ID16351256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:20870665..21000992hg38UCSC Ensembl
Innerchr14:21338824..21469151hg19UCSC Ensembl
Innerchr14:20408664..20538991hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38130328
hg19130328
hg18130328
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1148554
SamplesHGDP01281
Known GenesECRP, METTL17, RNASE2, RNASE3, SLC39A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv563847
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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