A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3682093



Internal ID18980374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12340600..12532643hg38UCSC Ensembl
Innerchr8:12198109..12390152hg19UCSC Ensembl
Innerchr8:12242480..12434523hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38192044
hg19192044
hg18192044
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1016517
Supporting Variants
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC649352
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3682093
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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