A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509569



Internal ID15825595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:43552272..43621659hg38UCSC Ensembl
Outerchr15:43844470..43913857hg19UCSC Ensembl
Outerchr15:41631762..41701149hg18UCSC Ensembl
Outerchr15:41631762..41701149hg17UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg383114
hg193114
hg183114
hg173114
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623674
SamplesNA18994
Known GenesCKMT1B, PPIP5K1, RNU6-28P, STRC
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)nsv509569
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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