A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509605



Internal ID15825631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:21196615..21226805hg38UCSC Ensembl
Outerchr16:21207936..21238126hg19UCSC Ensembl
Outerchr16:21115437..21145627hg18UCSC Ensembl
Outerchr16:21115437..21145627hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg384424
hg194424
hg184424
hg174424
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv619683, nssv621022, nssv618114
SamplesCHM, NA15510, NA10860
Known GenesZP2
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)nsv509605
Frequency
Sample Size4
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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