A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1416



Internal ID15544293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:54416688..54462013hg38UCSC Ensembl
Outerchr18:51943058..51988383hg19UCSC Ensembl
Outerchr18:50197056..50242381hg18UCSC Ensembl
Outerchr18:50197056..50242381hg17UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg3845326
hg1945326
hg1845326
hg1745326
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2313
Supporting Variants
SamplesNA19240
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)nssv1416
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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