A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv510672



Internal ID8793610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2602899..2646474hg38UCSC Ensembl
Outerchr16:2652900..2696475hg19UCSC Ensembl
Outerchr16:2592901..2636476hg18UCSC Ensembl
Outerchr16:2592901..2636476hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3843576
hg1943576
hg1843576
hg1743576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv617424
SamplesCHM
Known GenesFLJ42627, LOC652276, PDPK1
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)nsv510672
Frequency
Sample Size4
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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