A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv8299



Internal ID15188879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:133233165..133278200hg38UCSC Ensembl
Outerchr6:133554303..133599338hg19UCSC Ensembl
Outerchr6:133595996..133641031hg18UCSC Ensembl
Outerchr6:133595996..133641031hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3845036
hg1945036
hg1845036
hg1745036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5483
Supporting Variants
SamplesNA12156
Known GenesEYA4
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)nssv8299
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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