A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508352



Internal ID15480028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:43237728..43390960hg38UCSC Ensembl
Outerchr5:43237830..43391062hg19UCSC Ensembl
Outerchr5:43273587..43426819hg18UCSC Ensembl
Outerchr5:43273587..43426819hg17UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38153233
hg19153233
hg18153233
hg17153233
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv618764
SamplesNA10860
Known GenesCCL28, HMGCS1, NIM1
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)nsv508352
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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