A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5964



Internal ID15196719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:47783812..47793652hg38UCSC Ensembl
Outerchr3:47825302..47835142hg19UCSC Ensembl
Outerchr3:47800306..47810146hg18UCSC Ensembl
Outerchr3:47800306..47810146hg17UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388485
hg198485
hg188485
hg178485
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3808
Supporting Variants
SamplesNA19129
Known Genes
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)nssv5964
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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