A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4208



Internal ID15538935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:53574483..53609815hg38UCSC Ensembl
Outerchr1:54040156..54075488hg19UCSC Ensembl
Outerchr1:53812744..53848076hg18UCSC Ensembl
Outerchr1:53752177..53787509hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg384418
hg194418
hg184418
hg174418
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv899
Supporting Variants
SamplesNA12878
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)nssv4208
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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