A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623382



Internal ID15821955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:127080374..127130481hg38UCSC Ensembl
Outerchr3:126799217..126849324hg19UCSC Ensembl
Outerchr3:128281907..128332014hg18UCSC Ensembl
Outerchr3:128281915..128332022hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg384698
hg194698
hg184698
hg174698
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508949
Supporting Variants
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)nssv623382
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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