A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508197



Internal ID15824224
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:207476899..207501418hg38UCSC Ensembl
Outerchr2:208341623..208366142hg19UCSC Ensembl
Outerchr2:208049868..208074387hg18UCSC Ensembl
Outerchr2:208167129..208191648hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg3824520
hg1924520
hg1824520
hg1724520
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618705
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)nsv508197
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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