A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508536



Internal ID15824563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:15811621..15834269hg38UCSC Ensembl
Outerchr9:15811619..15834267hg19UCSC Ensembl
Outerchr9:15801619..15824267hg18UCSC Ensembl
Outerchr9:15801619..15824267hg17UCSC Ensembl
Cytoband9p22.3
Allele length
AssemblyAllele length
hg3822649
hg1922649
hg1822649
hg1722649
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622605, nssv617368
SamplesCHM, NA18994
Known GenesCCDC171
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)nsv508536
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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