A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509803



Internal ID15825829
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45776337..45849615hg38UCSC Ensembl
Outerchr21:47196251..47269529hg19UCSC Ensembl
Outerchr21:46020679..46093957hg18UCSC Ensembl
Outerchr21:46020679..46093957hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg385747
hg195747
hg185747
hg175747
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621141, nssv623840
SamplesNA15510, NA18994
Known GenesLOC100129027
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)nsv509803
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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