A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619433



Internal ID15471328
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177884347..178008855hg38UCSC Ensembl
Outerchr5:177311348..177435856hg19UCSC Ensembl
Outerchr5:177243954..177368462hg18UCSC Ensembl
Outerchr5:177243954..177368462hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3815054
hg1915054
hg1815054
hg1715054
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509105
Supporting Variants
SamplesNA10860
Known GenesFAM153C, PROP1
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)nssv619433
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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