A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023349



Internal ID19112566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12385658..12465354hg38UCSC Ensembl
Innerchr8:12243167..12322863hg19UCSC Ensembl
Innerchr8:12287538..12367234hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3879697
hg1979697
hg1879697
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7048n100
Supporting Variantsnssv3664938, nssv3664937
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1023349
Frequency
Sample Size11257
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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