A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4639



Internal ID15196621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:169148..195217hg38UCSC Ensembl
Outerchr16:219147..245216hg19UCSC Ensembl
Outerchr16:159147..185217hg18UCSC Ensembl
Outerchr16:159147..185217hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3826070
hg1926070
hg1826071
hg1726071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1698
Supporting Variants
SamplesNA19129
Known GenesHBA1, HBA2, HBQ1, LUC7L
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)nssv4639
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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