A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509634



Internal ID15825660
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:80398600..80469710hg38UCSC Ensembl
Outerchr16:80432497..80503607hg19UCSC Ensembl
Outerchr16:78989998..79061108hg18UCSC Ensembl
Outerchr16:78989998..79061108hg17UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg383224
hg193224
hg183224
hg173224
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623703
SamplesNA18994
Known Genes
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)nsv509634
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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