A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv10338



Internal ID15195774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38570526..38600375hg38UCSC Ensembl
Outerchr3:38612017..38641866hg19UCSC Ensembl
Outerchr3:38587021..38616870hg18UCSC Ensembl
Outerchr3:38587021..38616870hg17UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg387768
hg197768
hg187768
hg177768
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3770
Supporting Variants
SamplesNA18956
Known GenesSCN5A
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)nssv10338
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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