A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509576



Internal ID15825602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:76962019..77047336hg38UCSC Ensembl
Outerchr15:77254360..77339678hg19UCSC Ensembl
Outerchr15:75041415..75126733hg18UCSC Ensembl
Outerchr15:75041415..75126733hg17UCSC Ensembl
Cytoband15q24.3
Allele length
AssemblyAllele length
hg385396
hg195396
hg185396
hg175396
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv621012, nssv619670
SamplesNA15510, NA10860
Known GenesPSTPIP1, TSPAN3
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)nsv509576
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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