A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510793



Internal ID15478289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:31828945..31912884hg38UCSC Ensembl
Outerchr21:33201257..33285196hg19UCSC Ensembl
Outerchr21:32123128..32207067hg18UCSC Ensembl
Outerchr21:32123128..32207067hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3883940
hg1983940
hg1883940
hg1783940
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv622800
SamplesNA18994
Known GenesHUNK
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)nsv510793
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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