A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508881



Internal ID15824907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:205307078..205374958hg38UCSC Ensembl
Outerchr2:206171802..206239682hg19UCSC Ensembl
Outerchr2:205880047..205947927hg18UCSC Ensembl
Outerchr2:205997308..206065188hg17UCSC Ensembl
Cytoband2q33.3
Allele length
AssemblyAllele length
hg383100
hg193100
hg183100
hg173100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619296
SamplesNA10860
Known GenesPARD3B
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)nsv508881
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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