A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509678



Internal ID15825704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:82554252..82600523hg38UCSC Ensembl
Outerchr17:80512128..80558399hg19UCSC Ensembl
Outerchr17:78105417..78151688hg18UCSC Ensembl
Outerchr17:78105417..78151688hg17UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg389296
hg199296
hg189296
hg179296
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619722
SamplesNA10860
Known GenesFOXK2
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)nsv509678
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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