A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619309



Internal ID15817890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:239657251..239776096hg38UCSC Ensembl
Outerchr2:240578945..240697790hg19UCSC Ensembl
Outerchr2:240243882..240362727hg18UCSC Ensembl
Outerchr2:240315199..240434044hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384256
hg194256
hg184256
hg174256
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508898
Supporting Variants
SamplesNA10860
Known GenesLOC150935
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)nssv619309
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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