A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622723



Internal ID15474610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:68533527..68561284hg38UCSC Ensembl
Outerchr17:66529668..66557425hg19UCSC Ensembl
Outerchr17:64041263..64069020hg18UCSC Ensembl
Outerchr17:64041263..64069020hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3827758
hg1927758
hg1827758
hg1727758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510723
Supporting Variants
SamplesNA18994
Known GenesFAM20A, PRKAR1A
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)nssv622723
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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