A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv7246



Internal ID15536618
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:48001960..48046630hg38UCSC Ensembl
Outerchr16:48035871..48080541hg19UCSC Ensembl
Outerchr16:46593372..46638042hg18UCSC Ensembl
Outerchr16:46593372..46638042hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3844671
hg1944671
hg1844671
hg1744671
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1798
Supporting Variants
SamplesNA12156
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)nssv7246
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