A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618709



Internal ID15471827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:183024..203282hg38UCSC Ensembl
Outerchr3:224707..244965hg19UCSC Ensembl
Outerchr3:199707..219965hg18UCSC Ensembl
Outerchr3:199707..219965hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3820259
hg1920259
hg1820259
hg1720259
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv508206
Supporting Variants
SamplesNA10860
Known GenesCHL1
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)nssv618709
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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