A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508202



Internal ID15824229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:234641349..234687433hg38UCSC Ensembl
Outerchr2:235549993..235596077hg19UCSC Ensembl
Outerchr2:235214732..235260816hg18UCSC Ensembl
Outerchr2:235331993..235378077hg17UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3846085
hg1946085
hg1846085
hg1746085
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620202
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)nsv508202
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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