A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1018090



Internal ID18760623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12077151..12620670hg38UCSC Ensembl
Innerchr8:11934660..12478179hg19UCSC Ensembl
Innerchr8:11972069..12522550hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38543520
hg19543520
hg18550482
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7019n100
Supporting Variantsnssv3681782, nssv3681781
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)nsv1018090
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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