A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509652



Internal ID15825678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:9340982..9374034hg38UCSC Ensembl
Outerchr17:9244299..9277351hg19UCSC Ensembl
Outerchr17:9185024..9218076hg18UCSC Ensembl
Outerchr17:9185024..9218076hg17UCSC Ensembl
Cytoband17p13.1
Allele length
AssemblyAllele length
hg3814857
hg1914857
hg1814857
hg1714857
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621036
SamplesNA15510
Known GenesSTX8
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)nsv509652
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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