A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv596



Internal ID15545283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:160580725..160621392hg38UCSC Ensembl
Outerchr6:161001757..161042424hg19UCSC Ensembl
Outerchr6:160921747..160962414hg18UCSC Ensembl
Outerchr6:160972168..161012835hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3840668
hg1940668
hg1840668
hg1740668
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5567
Supporting Variants
SamplesNA19240
Known GenesLPA
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)nssv596
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