A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv333



Internal ID15198413
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:139321680..139355530hg38UCSC Ensembl
Outerchr3:139040522..139074372hg19UCSC Ensembl
Outerchr3:140523212..140557062hg18UCSC Ensembl
Outerchr3:140523220..140557070hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg387138
hg197138
hg187138
hg177138
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4035
Supporting Variants
SamplesNA19240
Known GenesMRPS22
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)nssv333
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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