A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509779



Internal ID15477277
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:247099178..247137315hg38UCSC Ensembl
Outerchr1:247262480..247300617hg19UCSC Ensembl
Outerchr1:245329103..245367240hg18UCSC Ensembl
Outerchr1:243588521..243626658hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg385500
hg195500
hg185500
hg175500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619835, nssv621118
SamplesNA15510, NA10860
Known GenesC1orf229, ZNF124, ZNF669
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)nsv509779
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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