A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1138752



Internal ID19256372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:12927807..12927859hg38UCSC Ensembl
Outerchr2:13067933..13067985hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3991342
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1138752
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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