A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612912



Internal ID16400321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143933019..143952282hg38UCSC Ensembl
Innerchr8:145007187..145026450hg19UCSC Ensembl
Innerchr8:145079175..145098438hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3819264
hg1919264
hg1819264
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125767
Samples
Known GenesMIR661, PLEC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612912
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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