A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2981



Internal ID15541567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:48659613..48675146hg38UCSC Ensembl
Outerchr18:46185984..46201517hg19UCSC Ensembl
Outerchr18:44439982..44455515hg18UCSC Ensembl
Outerchr18:44439982..44455515hg17UCSC Ensembl
Cytoband18q21.1
Allele length
AssemblyAllele length
hg385872
hg195872
hg185872
hg175872
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv2291
Supporting Variants
SamplesNA18555
Known GenesCTIF, MIR4743
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)nssv2981
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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