A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509535



Internal ID15477033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:161427434..161501307hg38UCSC Ensembl
Outerchr1:161397224..161471097hg19UCSC Ensembl
Outerchr1:159663848..159737721hg18UCSC Ensembl
Outerchr1:158210297..158284152hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38102830
hg19102830
hg18102830
hg17102830
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619817, nssv621105, nssv623802
SamplesNA15510, NA18994, NA10860
Known Genes
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)nsv509535
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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