A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123370



Internal ID18902907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:113106220..113106273hg38UCSC Ensembl
Outerchr2:113863797..113863850hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3972376
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123370
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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