A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3681751



Internal ID18633346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12035719..12454117hg38UCSC Ensembl
Innerchr8:11893228..12311626hg19UCSC Ensembl
Innerchr8:11930637..12355997hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38418399
hg19418399
hg18425361
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1031152
Supporting Variants
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, 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)nssv3681751
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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