A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6602



Internal ID15190576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53471532..53508621hg38UCSC Ensembl
Outerchr1:53937205..53974294hg19UCSC Ensembl
Outerchr1:53709793..53746882hg18UCSC Ensembl
Outerchr1:53649226..53686315hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3837090
hg1937090
hg1837090
hg1737090
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv888
Supporting Variants
SamplesNA12156
Known GenesGLIS1
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)nssv6602
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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