A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4331



Internal ID15539058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:69915629..69944533hg38UCSC Ensembl
Outerchr18:67582865..67611769hg19UCSC Ensembl
Outerchr18:65733845..65762749hg18UCSC Ensembl
Outerchr18:65733845..65762749hg17UCSC Ensembl
Cytoband18q22.2
Allele length
AssemblyAllele length
hg3810844
hg1910844
hg1810844
hg1710844
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2347
Supporting Variants
SamplesNA12878
Known GenesCD226
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)nssv4331
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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