A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1021584



Internal ID18764118
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12092030..12505127hg38UCSC Ensembl
Innerchr8:11949539..12362636hg19UCSC Ensembl
Innerchr8:11986948..12407007hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38413098
hg19413098
hg18420060
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7018n100
Supporting Variantsnssv3681790, nssv3681789, nssv3681788
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)nsv1021584
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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