A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508830



Internal ID15824856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:22966570..22972556hg38UCSC Ensembl
Outerchr2:23189442..23195428hg19UCSC Ensembl
Outerchr2:23042947..23048933hg18UCSC Ensembl
Outerchr2:23101094..23107080hg17UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg383173
hg193173
hg183173
hg173173
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621162, nssv623861
SamplesNA15510, NA18994
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)nsv508830
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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