A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508895



Internal ID15824921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:238695515..238780927hg38UCSC Ensembl
Outerchr2:239604156..239689568hg19UCSC Ensembl
Outerchr2:239268895..239354311hg18UCSC Ensembl
Outerchr2:239386156..239471572hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg383934
hg193934
hg183934
hg173934
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623365
SamplesNA18994
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)nsv508895
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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