A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508146



Internal ID15479822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:64249506..64260189hg38UCSC Ensembl
Outerchr2:64476640..64487323hg19UCSC Ensembl
Outerchr2:64330144..64340827hg18UCSC Ensembl
Outerchr2:64388291..64398974hg17UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg3810684
hg1910684
hg1810684
hg1710684
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620182
SamplesNA15510
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)nsv508146
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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