A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5680



Internal ID15543747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:78547626..78592890hg38UCSC Ensembl
Outerchr1:79013311..79058575hg19UCSC Ensembl
Outerchr1:78785899..78831163hg18UCSC Ensembl
Outerchr1:78725332..78770596hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3845265
hg1945265
hg1845265
hg1745265
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1577
Supporting Variants
SamplesNA19129
Known Genes
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)nssv5680
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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