A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv619691



Internal ID15471586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:57248694..57299748hg38UCSC Ensembl
Outerchr16:57282606..57333660hg19UCSC Ensembl
Outerchr16:55840107..55891161hg18UCSC Ensembl
Outerchr16:55840107..55891161hg17UCSC Ensembl
Cytoband16q13
Allele length
AssemblyAllele length
hg383076
hg193076
hg183076
hg173076
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509621
Supporting Variants
SamplesNA10860
Known GenesARL2BP, PLLP
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)nssv619691
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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