A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619809



Internal ID15818390
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:103934484..103971195hg38UCSC Ensembl
Outerchr1:104477106..104513817hg19UCSC Ensembl
Outerchr1:104278629..104315340hg18UCSC Ensembl
Outerchr1:104189127..104225838hg17UCSC Ensembl
Cytoband1p21.1
Allele length
AssemblyAllele length
hg383993
hg193993
hg183993
hg173993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509413
Supporting Variants
SamplesNA10860
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)nssv619809
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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