A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509653



Internal ID15477151
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:18328532..18406188hg38UCSC Ensembl
Outerchr17:18231846..18309502hg19UCSC Ensembl
Outerchr17:18172571..18250227hg18UCSC Ensembl
Outerchr17:18172571..18250227hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg389553
hg199553
hg189553
hg179553
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619710, nssv621037, nssv623711
SamplesNA15510, NA18994, NA10860
Known GenesEVPLL, MIR6778, SHMT1
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)nsv509653
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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