A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508716



Internal ID15480392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:25764580..25769074hg38UCSC Ensembl
Outerchr2:25987449..25991943hg19UCSC Ensembl
Outerchr2:25840953..25845447hg18UCSC Ensembl
Outerchr2:25899100..25903594hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg384495
hg194495
hg184495
hg174495
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622806
SamplesNA18994
Known GenesASXL2
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)nsv508716
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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