A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1112757



Internal ID18906694
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:25340931..25342331hg38UCSC Ensembl
Outerchr2:25563800..25565200hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1879n106
Supporting Variantsnssv3967256
SamplesKWS2
Known GenesDNMT3A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1112757
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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