A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622399



Internal ID15817624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:37470331..37504227hg38UCSC Ensembl
Outerchr13:38044468..38078364hg19UCSC Ensembl
Outerchr13:36942468..36976364hg18UCSC Ensembl
Outerchr13:36942468..36976364hg17UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg3833897
hg1933897
hg1833897
hg1733897
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510595
Supporting Variants
SamplesNA10860
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)nssv622399
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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