A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5965



Internal ID15543404
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50625033..50658159hg38UCSC Ensembl
Outerchr3:50662464..50695590hg19UCSC Ensembl
Outerchr3:50637468..50670594hg18UCSC Ensembl
Outerchr3:50637468..50670594hg17UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg386151
hg196151
hg186151
hg176151
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3815
Supporting Variants
SamplesNA19129
Known GenesMAPKAPK3
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)nssv5965
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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