A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509804



Internal ID15477302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:45879599..46235140hg38UCSC Ensembl
Outerchr21:47299513..47655054hg19UCSC Ensembl
Outerchr21:46123941..46479482hg18UCSC Ensembl
Outerchr21:46123941..46479482hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg383299
hg193299
hg183299
hg173299
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619866, nssv619865, nssv623841, nssv619867, nssv619864
SamplesNA18994, NA10860
Known GenesCOL6A1, COL6A2, FTCD, LSS, MCM3AP, MCM3AP-AS1, PCBP3, SPATC1L
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)nsv509804
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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