A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509620



Internal ID15825646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:49589684..49589684hg38UCSC Ensembl
Outerchr16:49623595..49623595hg19UCSC Ensembl
Outerchr16:48181096..48181096hg18UCSC Ensembl
Outerchr16:48181096..48181096hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg386522
hg196522
hg186522
hg176522
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623696, nssv621026
SamplesNA15510, NA18994
Known GenesZNF423
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)nsv509620
Frequency
Sample Size4
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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