A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv618608



Internal ID15816414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:61278994..61292077hg38UCSC Ensembl
Outerchr5:60574821..60587904hg19UCSC Ensembl
Outerchr5:60610578..60623661hg18UCSC Ensembl
Outerchr5:60610578..60623661hg17UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3813084
hg1913084
hg1813084
hg1713084
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510898
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)nssv618608
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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