A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508914



Internal ID15476412
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:45004646..45047422hg38UCSC Ensembl
Outerchr3:45046138..45088914hg19UCSC Ensembl
Outerchr3:45021142..45063918hg18UCSC Ensembl
Outerchr3:45021142..45063918hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383334
hg193334
hg183334
hg173334
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619320
SamplesNA10860
Known GenesCLEC3B, EXOSC7
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)nsv508914
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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