A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516685



Internal ID15097292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11841238..12712690hg38UCSC Ensembl
Innerchr8:11698747..12570199hg19UCSC Ensembl
Innerchr8:11736156..12614570hg18UCSC Ensembl
Innerchr8:11736156..12614570hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38871453
hg19871453
hg18878415
hg17878415
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv682075, nssv690582, nssv699244, nssv661211, nssv664884, nssv702607, nssv661799, nssv694438, nssv670182, nssv702962, nssv653353, nssv661505, nssv669415, nssv704213, nssv663225, nssv681564
Samples
Known GenesCTSB, DEFB109P1, DEFB130, DEFB134, DEFB135, DEFB136, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516685
Frequency
Sample Size2026
Observed Gain6
Observed Loss10
Observed Complex0
Frequencyn/a


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