A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1424



Internal ID15544284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:72963985..72975254hg38UCSC Ensembl
Outerchr18:70631220..70642489hg19UCSC Ensembl
Outerchr18:68782200..68793469hg18UCSC Ensembl
Outerchr18:68782200..68793469hg17UCSC Ensembl
Cytoband18q22.3
Allele length
AssemblyAllele length
hg3812945
hg1912945
hg1812945
hg1712945
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2352
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)nssv1424
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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