A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612930



Internal ID16400339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144345873..144443060hg38UCSC Ensembl
Innerchr8:145569535..145668443hg19UCSC Ensembl
Innerchr8:145540343..145639251hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3897188
hg1998909
hg1898909
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12437n54
Supporting Variantsnssv1125791
Samples
Known GenesADCK5, CPSF1, FBXL6, LOC100287098, MIR1234, MIR6849, MIR6893, MIR939, SLC39A4, SLC52A2, TMEM249, TONSL, VPS28
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612930
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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