A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1812



Internal ID15546375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:55256748..55289314hg38UCSC Ensembl
Outerchr16:55290660..55323226hg19UCSC Ensembl
Outerchr16:53848161..53880727hg18UCSC Ensembl
Outerchr16:53848161..53880727hg17UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg387158
hg197158
hg187158
hg177158
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4215
SamplesNA12878
Known Genes
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv1812
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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