A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622735



Internal ID15821308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:53938904..54020483hg38UCSC Ensembl
Outerchr18:51465274..51546853hg19UCSC Ensembl
Outerchr18:49719272..49800851hg18UCSC Ensembl
Outerchr18:49719272..49800851hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3881580
hg1981580
hg1881580
hg1781580
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510742
Supporting Variants
SamplesNA18994
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)nssv622735
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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