A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509357



Internal ID15825383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:82242762..82267232hg38UCSC Ensembl
Outerchr1:82708446..82732916hg19UCSC Ensembl
Outerchr1:82481034..82505504hg18UCSC Ensembl
Outerchr1:82420467..82444937hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg383048
hg193048
hg183048
hg173048
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623785
SamplesNA18994
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)nsv509357
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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