A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3157



Internal ID15191199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38580451..38585673hg38UCSC Ensembl
Outerchr3:38621942..38627164hg19UCSC Ensembl
Outerchr3:38596946..38602168hg18UCSC Ensembl
Outerchr3:38596946..38602168hg17UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg385433
hg195433
hg185433
hg175433
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3770
Supporting Variants
SamplesNA12878
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)nssv3157
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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