A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508857



Internal ID15824883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:109629255..109756060hg38UCSC Ensembl
Outerchr2:110386832..110513637hg19UCSC Ensembl
Outerchr2:109744121..109870926hg18UCSC Ensembl
Outerchr2:109744207..109871012hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg386334
hg196334
hg186334
hg176334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621174
SamplesNA15510
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)nsv508857
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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