A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3769



Internal ID15548411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:38266303..38301694hg38UCSC Ensembl
Outerchr3:38307794..38343185hg19UCSC Ensembl
Outerchr3:38282798..38318189hg18UCSC Ensembl
Outerchr3:38282798..38318189hg17UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg385598
hg195598
hg185598
hg175598
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1669
SamplesNA19240
Known GenesSLC22A13
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)nsv3769
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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