A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508556



Internal ID15824583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:88196812..88213475hg38UCSC Ensembl
Outerchr9:90811727..90828390hg19UCSC Ensembl
Outerchr9:90001547..90018210hg18UCSC Ensembl
Outerchr9:88041281..88057944hg17UCSC Ensembl
Cytoband9q22.1
Allele length
AssemblyAllele length
hg3816664
hg1916664
hg1816664
hg1716664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620027
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)nsv508556
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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