A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1031642



Internal ID19120864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:68816385..68902614hg38UCSC Ensembl
Innerchr8:69728620..69814849hg19UCSC Ensembl
Innerchr8:69891174..69977403hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3886230
hg1986230
hg1886230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7238n100
Supporting Variantsnssv3689505, nssv3689504, nssv3689503, nssv3689506
Samples
Known GenesC8orf34
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1031642
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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