A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv309



Internal ID15545004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:75409183..75422159hg38UCSC Ensembl
Outerchr3:75458334..75471310hg19UCSC Ensembl
Outerchr3:75541024..75554000hg18UCSC Ensembl
Outerchr3:75541024..75554000hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg3811440
hg1911440
hg1811440
hg1711440
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3883
Supporting Variants
SamplesNA19240
Known GenesFAM86DP
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)nssv309
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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