A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv508917



Internal ID15476415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:48400224..48499357hg38UCSC Ensembl
Outerchr3:48441693..48536791hg19UCSC Ensembl
Outerchr3:48416697..48511795hg18UCSC Ensembl
Outerchr3:48416697..48511795hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg387915
hg197915
hg187915
hg177915
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621199, nssv619324
SamplesNA15510, NA10860
Known GenesATRIP, CCDC51, PLXNB1, SHISA5, TMA7, TREX1
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)nsv508917
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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