A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509797



Internal ID15825823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:39967576..39984224hg38UCSC Ensembl
Outerchr21:41339503..41356151hg19UCSC Ensembl
Outerchr21:40261373..40278021hg18UCSC Ensembl
Outerchr21:40261373..40278021hg17UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg383754
hg193754
hg183754
hg173754
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621138, nssv619860
SamplesNA15510, NA10860
Known Genes
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)nsv509797
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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