A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623375



Internal ID15821948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:75303331..75437015hg38UCSC Ensembl
Outerchr3:75352482..75486166hg19UCSC Ensembl
Outerchr3:75435172..75568856hg18UCSC Ensembl
Outerchr3:75435172..75568856hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3811524
hg1911524
hg1811524
hg1711524
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508933
Supporting Variants
SamplesNA18994
Known GenesFAM86DP
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)nssv623375
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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