A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5975



Internal ID15543391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:75408665..75418781hg38UCSC Ensembl
Outerchr3:75457816..75467932hg19UCSC Ensembl
Outerchr3:75540506..75550622hg18UCSC Ensembl
Outerchr3:75540506..75550622hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3810344
hg1910344
hg1810344
hg1710344
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3883
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)nssv5975
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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