A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv624343



Internal ID15822916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:82585348..82617323hg38UCSC Ensembl
Outerchr13:83159483..83191458hg19UCSC Ensembl
Outerchr13:82057484..82089459hg18UCSC Ensembl
Outerchr13:82057484..82089459hg17UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3831976
hg1931976
hg1831976
hg1731976
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510597
Supporting Variants
SamplesNA18994
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)nssv624343
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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