A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131453



Internal ID18934523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:25753020..25753093hg38UCSC Ensembl
Outerchr2:25975889..25975962hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3985844
SamplesKWS1
Known GenesASXL2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131453
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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