A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623840



Internal ID15822413
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
hg384734
hg194734
hg184734
hg174734
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509803
Supporting Variants
SamplesNA18994
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)nssv623840
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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