A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509640



Internal ID15477138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:89899749..89969797hg38UCSC Ensembl
Outerchr16:89966157..90036205hg19UCSC Ensembl
Outerchr16:88493658..88563706hg18UCSC Ensembl
Outerchr16:88493658..88563706hg17UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg383911
hg193911
hg183911
hg173911
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619699
SamplesNA10860
Known GenesCENPBD1, DEF8, MC1R, TCF25, TUBB3
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)nsv509640
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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