A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623420



Internal ID15821993
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:157979644..158013845hg38UCSC Ensembl
Outerchr4:158900796..158934997hg19UCSC Ensembl
Outerchr4:159120246..159154447hg18UCSC Ensembl
Outerchr4:159258401..159292602hg17UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg384308
hg194308
hg184308
hg174308
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509022
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)nssv623420
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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