A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612909



Internal ID16053632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143917935..144161320hg38UCSC Ensembl
Innerchr8:144992103..145216223hg19UCSC Ensembl
Innerchr8:145064091..145288211hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38243386
hg19224121
hg18224121
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12431n54
Supporting Variantsnssv1156387
SamplesHGDP00950
Known GenesCYC1, EXOSC4, FAM203A, GPAA1, GRINA, KIAA1875, MAF1, MIR661, MIR6846, MIR6847, MROH1, OPLAH, PARP10, PLEC, SHARPIN, SPATC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612909
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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