A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1125794



Internal ID15978980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144359179..144448001hg38UCSC Ensembl
Innerchr8:145582839..145673384hg19UCSC Ensembl
Innerchr8:145553647..145644192hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3888823
hg1990546
hg1890546
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv612933
Supporting Variants
Samples
Known GenesADCK5, CPSF1, LOC100287098, MIR1234, MIR6849, MIR6893, MIR939, SLC39A4, SLC52A2, TONSL, VPS28
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1125794
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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