A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619040



Internal ID15818844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:122710149..122725180hg38UCSC Ensembl
Outerchr2:123467725..123482756hg19UCSC Ensembl
Outerchr2:123184195..123199226hg18UCSC Ensembl
Outerchr2:123183955..123198986hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3815032
hg1915032
hg1815032
hg1715032
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508165
Supporting Variants
SamplesNA10860
Known Genes
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv619040
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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