A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508538



Internal ID15480214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:17887413..17920966hg38UCSC Ensembl
Outerchr9:17887411..17920964hg19UCSC Ensembl
Outerchr9:17877411..17910964hg18UCSC Ensembl
Outerchr9:17877411..17910964hg17UCSC Ensembl
Cytoband9p22.2
Allele length
AssemblyAllele length
hg3833554
hg1933554
hg1833554
hg1733554
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622606, nssv620021
SamplesNA15510, NA18994
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)nsv508538
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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