A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619893



Internal ID15818474
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5484534..5496245hg38UCSC Ensembl
Outerchr2:5624666..5636377hg19UCSC Ensembl
Outerchr2:5542117..5553828hg18UCSC Ensembl
Outerchr2:5575264..5586975hg17UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg384092
hg194092
hg184092
hg174092
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508812
Supporting Variants
SamplesNA10860
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)nssv619893
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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