A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619670



Internal ID15471565
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 StatusS
Merged Variantsnsv509576
Supporting Variants
SamplesNA10860
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)nssv619670
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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