A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612328



Internal ID16399737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:133093077..133122429hg38UCSC Ensembl
Innerchr8:134105321..134134673hg19UCSC Ensembl
Innerchr8:134174503..134203855hg18UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3829353
hg1929353
hg1829353
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156645
Samples1780862484_A
Known GenesSLA, TG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612328
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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