A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508192



Internal ID15824219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:194022157..194056516hg38UCSC Ensembl
Outerchr2:194886881..194921240hg19UCSC Ensembl
Outerchr2:194595126..194629485hg18UCSC Ensembl
Outerchr2:194712387..194746746hg17UCSC Ensembl
Cytoband2q32.3
Allele length
AssemblyAllele length
hg3834360
hg1934360
hg1834360
hg1734360
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617468
SamplesCHM
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)nsv508192
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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