A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8294



Internal ID15535570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:125076665..125121256hg38UCSC Ensembl
Outerchr6:125397811..125442402hg19UCSC Ensembl
Outerchr6:125439510..125484101hg18UCSC Ensembl
Outerchr6:125439510..125484101hg17UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3844592
hg1944592
hg1844592
hg1744592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5466
Supporting Variants
SamplesNA12156
Known GenesRNF217
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)nssv8294
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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