A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1023891



Internal ID19113108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12555281hg38UCSC Ensembl
Innerchr8:12232269..12412790hg19UCSC Ensembl
Innerchr8:12276640..12457161hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38180522
hg19180522
hg18180522
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7055n100
Supporting Variantsnssv3682679, nssv3682682, nssv3754547, nssv3682681, nssv3682675, nssv3754548, nssv3682683, nssv3682677, nssv3682676, nssv3682680, nssv3682678
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)nsv1023891
Frequency
Sample Size11257
Observed Gain10
Observed Loss1
Observed Complex0
Frequencyn/a


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