A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508712



Internal ID15824739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:14427532..14465663hg38UCSC Ensembl
Outerchr2:14567656..14605787hg19UCSC Ensembl
Outerchr2:14485107..14523238hg18UCSC Ensembl
Outerchr2:14518254..14556385hg17UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg3838132
hg1938132
hg1838132
hg1738132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617455
SamplesCHM
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)nsv508712
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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