A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565519



Internal ID16006242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:92033004..92089711hg38UCSC Ensembl
Innerchr14:92499348..92556055hg19UCSC Ensembl
Innerchr14:91569101..91625808hg18UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg3856708
hg1956708
hg1856708
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149538
Samples1780862309_A
Known GenesATXN3, TRIP11
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565519
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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