A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152815



Internal ID19195038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:161536589..161541390hg38UCSC Ensembl
Outerchr2:162393099..162397900hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg384802
hg194802
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997849
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152815
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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