A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618048



Internal ID15817203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:162524069..162524069hg38UCSC Ensembl
Outerchr5:161951075..161951075hg19UCSC Ensembl
Outerchr5:161883653..161883653hg18UCSC Ensembl
Outerchr5:161883653..161883653hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg386848
hg196848
hg186848
hg176848
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509098
Supporting Variants
SamplesCHM
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)nssv618048
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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