A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1016069



Internal ID18758604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12130205..12581370hg38UCSC Ensembl
Innerchr8:11987714..12438879hg19UCSC Ensembl
Innerchr8:12025123..12483250hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38451166
hg19451166
hg18458128
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7025n100
Supporting Variantsnssv3681859, nssv3681860
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732, USP17L2, USP17L7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1016069
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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