A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508542



Internal ID15824569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:35210286..35268844hg38UCSC Ensembl
Outerchr9:35210283..35268841hg19UCSC Ensembl
Outerchr9:35200283..35258841hg18UCSC Ensembl
Outerchr9:35200283..35258841hg17UCSC Ensembl
Cytoband9p13.3
Allele length
AssemblyAllele length
hg3858559
hg1958559
hg1858559
hg1758559
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622609
SamplesNA18994
Known GenesUNC13B
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)nsv508542
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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