A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509089



Internal ID15825115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:137678660..137710924hg38UCSC Ensembl
Outerchr5:137014349..137046613hg19UCSC Ensembl
Outerchr5:137042248..137074512hg18UCSC Ensembl
Outerchr5:137042248..137074512hg17UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg383486
hg193486
hg183486
hg173486
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620834
SamplesNA15510
Known GenesKLHL3
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)nsv509089
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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