A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3770



Internal ID15201727
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38564119..38600375hg38UCSC Ensembl
Outerchr3:38605610..38641866hg19UCSC Ensembl
Outerchr3:38580614..38616870hg18UCSC Ensembl
Outerchr3:38580614..38616870hg17UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv3157, nssv3092, nssv10338, nssv5957
SamplesNA18956, NA19129, NA12878, NA18555
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)nsv3770
Frequency
Sample Size9
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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