A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv509604



Internal ID15825630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:20578158..20632353hg38UCSC Ensembl
Outerchr16:20589480..20643675hg19UCSC Ensembl
Outerchr16:20496981..20551176hg18UCSC Ensembl
Outerchr16:20496981..20551176hg17UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg383500
hg193500
hg183500
hg173500
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv623690
SamplesNA18994
Known GenesACSM1
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)nsv509604
Frequency
Sample Size4
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer