A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2385



Internal ID15194065
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:184549..200144hg38UCSC Ensembl
Outerchr3:226232..241827hg19UCSC Ensembl
Outerchr3:201232..216827hg18UCSC Ensembl
Outerchr3:201232..216827hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3815596
hg1915596
hg1815596
hg1715596
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3670
Supporting Variants
SamplesNA18555
Known GenesCHL1
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)nssv2385
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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