A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1075529



Internal ID18974741
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12037890..12096291hg38UCSC Ensembl
chr8:11895399..11953800hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3858402
hg1958402
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3765264
SamplesKWP1
Known GenesDEFB130, LOC100133267, ZNF705D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceThareja_et_al_2015
Pubmed ID25765185
Accession Number(s)nsv1075529
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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