A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508326



Internal ID15480002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:77718694..77768562hg38UCSC Ensembl
Outerchr1:78184379..78234247hg19UCSC Ensembl
Outerchr1:77956967..78006835hg18UCSC Ensembl
Outerchr1:77896400..77946268hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3849869
hg1949869
hg1849869
hg1749869
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618975
SamplesNA10860
Known GenesUSP33
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)nsv508326
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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