A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021279



Internal ID19110496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12376777..12585534hg38UCSC Ensembl
Innerchr8:12234286..12443043hg19UCSC Ensembl
Innerchr8:12278657..12487414hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38208758
hg19208758
hg18208758
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7060n100
Supporting Variantsnssv3755808, nssv3755807
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1021279
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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