A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510721



Internal ID15478217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:66240899..66313640hg38UCSC Ensembl
Outerchr17:64237017..64309758hg19UCSC Ensembl
Outerchr17:61667479..61740220hg18UCSC Ensembl
Outerchr17:61667479..61740220hg17UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3872742
hg1972742
hg1872742
hg1772742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620103, nssv618950
SamplesNA15510, NA10860
Known GenesPRKCA
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)nsv510721
Frequency
Sample Size4
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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