A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv511074



Internal ID15827096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:104997956..105027708hg38UCSC Ensembl
Outerchr2:105614414..105644166hg19UCSC Ensembl
Outerchr2:104980846..105010598hg18UCSC Ensembl
Outerchr2:105072932..105102684hg17UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg3829753
hg1929753
hg1829753
hg1729753
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622439
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)nsv511074
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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