A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022473



Internal ID18765007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:91854892..94250166hg38UCSC Ensembl
Innerchr8:92867120..95262394hg19UCSC Ensembl
Innerchr8:92936296..95331570hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg382395275
hg192395275
hg182395275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3689718
Samples
Known GenesC8orf87, CDH17, FAM92A1, FLJ46284, GEM, LINC00535, MIR378D2, MIR8084, PDP1, RBM12B, RBM12B-AS1, RUNX1T1, TMEM67, TRIQK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1022473
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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