A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv669415



Internal ID15059381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:11841238..12693647hg38UCSC Ensembl
Innerchr8:11698747..12551156hg19UCSC Ensembl
Innerchr8:11736156..12595527hg18UCSC Ensembl
Innerchr8:11736156..12595527hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38852410
hg19852410
hg18859372
hg17859372
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516685
Supporting Variants
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)nssv669415
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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