A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510696



Internal ID15478192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:8872217..8929227hg38UCSC Ensembl
Outerchr17:8775534..8832544hg19UCSC Ensembl
Outerchr17:8716259..8773269hg18UCSC Ensembl
Outerchr17:8716259..8773269hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3857011
hg1957011
hg1857011
hg1757011
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622714
SamplesNA18994
Known GenesPIK3R5
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)nsv510696
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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