A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv621020



Internal ID15473684
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2842958..2874324hg38UCSC Ensembl
Outerchr16:2892959..2924325hg19UCSC Ensembl
Outerchr16:2832960..2864326hg18UCSC Ensembl
Outerchr16:2832960..2864326hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg387374
hg197374
hg187374
hg177374
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv509587
Supporting Variants
SamplesNA15510
Known GenesPRSS22
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)nssv621020
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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