A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508147



Internal ID15479823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:70999803..71067040hg38UCSC Ensembl
Outerchr2:71226933..71294170hg19UCSC Ensembl
Outerchr2:71080441..71147678hg18UCSC Ensembl
Outerchr2:71138588..71205825hg17UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg3867238
hg1967238
hg1867238
hg1767238
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620183
SamplesNA15510
Known GenesOR7E91P
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)nsv508147
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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