A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1128798



Internal ID19254240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:91931374..92072474hg38UCSC Ensembl
Outerchr2:92119400..92260500hg19UCSC Ensembl
Cytoband2p11.1
Allele length
AssemblyAllele length
hg38141101
hg19141101
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961466
SamplesKWS1
Known GenesACTR3BP2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1128798
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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