A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017647



Internal ID18760181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12092030..12564499hg38UCSC Ensembl
Innerchr8:11949539..12422008hg19UCSC Ensembl
Innerchr8:11986948..12466379hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38472470
hg19472470
hg18479432
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7018n100
Supporting Variantsnssv3681802, nssv3681801, nssv3681803
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)nsv1017647
Frequency
Sample Size29084
Observed Gain2
Observed Loss1
Observed Complex0
Frequencyn/a


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