A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv611708



Internal ID16052431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86193656..86321739hg38UCSC Ensembl
Innerchr8:87205885..87333968hg19UCSC Ensembl
Innerchr8:87275001..87403084hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38128084
hg19128084
hg18128084
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12228n54
Supporting Variantsnssv1117704
Samples
Known GenesSLC7A13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv611708
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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