A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1152818



Internal ID19198690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238485258..238486859hg38UCSC Ensembl
Outerchr2:239393899..239395500hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997856
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1152818
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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