A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1145776



Internal ID19200354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:112361222..112365123hg38UCSC Ensembl
Outerchr2:113118799..113122700hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg383902
hg193902
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997138
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1145776
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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