A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5979



Internal ID15543387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:112154340..112169874hg38UCSC Ensembl
Outerchr3:111873187..111888721hg19UCSC Ensembl
Outerchr3:113355877..113371411hg18UCSC Ensembl
Outerchr3:113355877..113371411hg17UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg389284
hg199284
hg189284
hg179284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3948
Supporting Variants
SamplesNA19129
Known GenesSLC9C1
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)nssv5979
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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