A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508537



Internal ID15480213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:113047721..113093181hg38UCSC Ensembl
Outerchr1:113590343..113635803hg19UCSC Ensembl
Outerchr1:113391866..113437326hg18UCSC Ensembl
Outerchr1:113302385..113347845hg17UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3845461
hg1945461
hg1845461
hg1745461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617355
SamplesCHM
Known GenesLOC100996251, LRIG2
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)nsv508537
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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