A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2407



Internal ID15540727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:112153059..112170145hg38UCSC Ensembl
Outerchr3:111871906..111888992hg19UCSC Ensembl
Outerchr3:113354596..113371682hg18UCSC Ensembl
Outerchr3:113354596..113371682hg17UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg389542
hg199542
hg189542
hg179542
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3948
Supporting Variants
SamplesNA18555
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)nssv2407
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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