A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv623874



Internal ID15822447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:128583577..128668500hg38UCSC Ensembl
Outerchr2:129341151..129426074hg19UCSC Ensembl
Outerchr2:129057621..129142544hg18UCSC Ensembl
Outerchr2:129057381..129142304hg17UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383402
hg193402
hg183402
hg173402
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv508866
Supporting Variants
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)nssv623874
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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