A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3681771



Internal ID18633366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12077151..12581370hg38UCSC Ensembl
Innerchr8:11934660..12438879hg19UCSC Ensembl
Innerchr8:11972069..12483250hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38504220
hg19504220
hg18511182
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1028451
Supporting Variants
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3681771
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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