A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612936



Internal ID16053659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144416180..144479830hg38UCSC Ensembl
Innerchr8:145641564..145705213hg19UCSC Ensembl
Innerchr8:145612372..145676021hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3863651
hg1963650
hg1863650
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1125797
Samples
Known GenesCYHR1, FOXH1, KIFC2, LOC100287098, MIR6893, SLC39A4, TONSL, VPS28
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612936
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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