A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508922



Internal ID15476420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:51940932..52009520hg38UCSC Ensembl
Outerchr3:51974948..52043536hg19UCSC Ensembl
Outerchr3:51949988..52018576hg18UCSC Ensembl
Outerchr3:51949988..52018576hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg386404
hg196404
hg186404
hg176404
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621202
SamplesNA15510
Known GenesABHD14A, ABHD14A-ACY1, ABHD14B, ACY1, GPR62, PARP3, PCBP4, RPL29, RRP9
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)nsv508922
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer