A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9975



Internal ID15540071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:47025232..47026548hg38UCSC Ensembl
Outerchr18:44551603..44552919hg19UCSC Ensembl
Outerchr18:42805601..42806917hg18UCSC Ensembl
Outerchr18:42805601..42806917hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg3820457
hg1920457
hg1820457
hg1720457
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2284
Supporting Variants
SamplesNA18507
Known GenesKATNAL2
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)nssv9975
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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