A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1022417



Internal ID18764951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12092030..12545643hg38UCSC Ensembl
Innerchr8:11949539..12403152hg19UCSC Ensembl
Innerchr8:11986948..12447523hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38453614
hg19453614
hg18460576
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7018n100
Supporting Variantsnssv3754263, nssv3681795, nssv3681796, nssv3681797, nssv3681794
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)nsv1022417
Frequency
Sample Size29084
Observed Gain4
Observed Loss1
Observed Complex0
Frequencyn/a


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