A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1151963



Internal ID18852674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:230460583..230460930hg38UCSC Ensembl
Outerchr2:231325298..231325645hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3999147
SamplesKWB1
Known GenesSP100
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1151963
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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