A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509012



Internal ID15476510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:101342643..101362810hg38UCSC Ensembl
Outerchr4:102263800..102283967hg19UCSC Ensembl
Outerchr4:102482823..102502990hg18UCSC Ensembl
Outerchr4:102620978..102641145hg17UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg383123
hg193123
hg183123
hg173123
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619379
SamplesNA10860
Known GenesFLJ20021, PPP3CA
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)nsv509012
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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