A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1024271



Internal ID19113488
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 StatusM
Merged Variants
Supporting Variantsnssv3684173
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)nsv1024271
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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