A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148949



Internal ID18855837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:102758023..102758075hg38UCSC Ensembl
Outerchr2:103374482..103374534hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997736
SamplesKWB1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148949
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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