A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6228



Internal ID15537635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:72860774..72885964hg38UCSC Ensembl
Outerchr8:73773009..73798199hg19UCSC Ensembl
Outerchr8:73935563..73960753hg18UCSC Ensembl
Outerchr8:73935563..73960753hg17UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg3825191
hg1925191
hg1825191
hg1725191
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6255
Supporting Variants
SamplesNA12156
Known GenesKCNB2
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)nssv6228
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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