A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv568



Internal ID15545342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:85990563..86007475hg38UCSC Ensembl
Outerchr6:86700281..86717193hg19UCSC Ensembl
Outerchr6:86757000..86773912hg18UCSC Ensembl
Outerchr6:86757000..86773912hg17UCSC Ensembl
Cytoband6q14.3
Allele length
AssemblyAllele length
hg3816913
hg1916913
hg1816913
hg1716913
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5384
Supporting Variants
SamplesNA19240
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)nssv568
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