A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5943



Internal ID15543430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:13621347..13653497hg38UCSC Ensembl
Outerchr3:13662847..13694997hg19UCSC Ensembl
Outerchr3:13637848..13669998hg18UCSC Ensembl
Outerchr3:13637848..13669998hg17UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg387131
hg197131
hg187131
hg177131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3708
Supporting Variants
SamplesNA19129
Known GenesFBLN2, LINC00620
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)nssv5943
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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