A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112596



Internal ID18920761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:110226242..110228242hg38UCSC Ensembl
Outerchr10:111986000..111988000hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg382001
hg192001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3966697
SamplesKWS2
Known GenesMXI1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112596
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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