A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622668



Internal ID15474555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:25343323..25376831hg38UCSC Ensembl
Outerchr13:25917461..25950969hg19UCSC Ensembl
Outerchr13:24815461..24848969hg18UCSC Ensembl
Outerchr13:24815461..24848969hg17UCSC Ensembl
Cytoband13q12.13
Allele length
AssemblyAllele length
hg3833509
hg1933509
hg1833509
hg1733509
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510596
Supporting Variants
SamplesNA18994
Known GenesATP8A2
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)nssv622668
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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