A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018045



Internal ID18760578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:129851398..130110398hg38UCSC Ensembl
Innerchr8:130863644..131122644hg19UCSC Ensembl
Innerchr8:130932826..131191826hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38259001
hg19259001
hg18259001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3757368
Samples
Known GenesASAP1, ASAP1-IT2, FAM49B, MIR5194
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1018045
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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