A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1033009



Internal ID18775543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12130205..12545643hg38UCSC Ensembl
Innerchr8:11987714..12403152hg19UCSC Ensembl
Innerchr8:12025123..12447523hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38415439
hg19415439
hg18422401
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7026n100
Supporting Variantsnssv3754278, nssv3681849
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)nsv1033009
Frequency
Sample Size29084
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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