A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv612573



Internal ID16399982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:141212346..141252228hg38UCSC Ensembl
Innerchr8:142222445..142262327hg19UCSC Ensembl
Innerchr8:142291627..142331509hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3839883
hg1939883
hg1839883
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1124292
Samples
Known GenesSLC45A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv612573
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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