A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1149290



Internal ID19198152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:137459257..137463558hg38UCSC Ensembl
Outerchr3:137178099..137182400hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg384302
hg194302
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4002799
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1149290
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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