A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509799



Internal ID15477297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43724009..43852846hg38UCSC Ensembl
Outerchr21:45143890..45272727hg19UCSC Ensembl
Outerchr21:43968318..44097155hg18UCSC Ensembl
Outerchr21:43968318..44097155hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg386689
hg196689
hg186689
hg176689
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619862
SamplesNA10860
Known GenesCSTB, LOC284837, PDXK, RRP1
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)nsv509799
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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