A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1126555



Internal ID18920257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:32999394..33002226hg38UCSC Ensembl
Outerchr2:33224461..33227293hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg382833
hg192833
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1884n106
Supporting Variantsnssv3984810
SamplesKWS1
Known GenesLTBP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1126555
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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