A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564044



Internal ID16004767
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:23539341..23572415hg38UCSC Ensembl
Innerchr14:24008550..24041624hg19UCSC Ensembl
Innerchr14:23078390..23111464hg18UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3833075
hg1933075
hg1833075
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv824368
Samples
Known GenesAP1G2, JPH4, THTPA, ZFHX2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564044
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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