A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508863



Internal ID15824889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:126310817..126319547hg38UCSC Ensembl
Outerchr2:127068394..127077124hg19UCSC Ensembl
Outerchr2:126784864..126793594hg18UCSC Ensembl
Outerchr2:126784624..126793354hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg386605
hg196605
hg186605
hg176605
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619916
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)nsv508863
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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