A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3684173



Internal ID18982454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17418630..17540313hg38UCSC Ensembl
Innerchr8:17276139..17397822hg19UCSC Ensembl
Innerchr8:17320510..17442201hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38121684
hg19121684
hg18121692
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1024271
Supporting Variants
Samples
Known GenesSLC7A2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3684173
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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