A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510689



Internal ID15826714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:62493808..62522233hg38UCSC Ensembl
Outerchr16:62527712..62556137hg19UCSC Ensembl
Outerchr16:61085213..61113638hg18UCSC Ensembl
Outerchr16:61085213..61113638hg17UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3828426
hg1928426
hg1828426
hg1728426
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv620090
SamplesNA15510
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)nsv510689
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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