A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4014



Internal ID15201995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:132668918..132704197hg38UCSC Ensembl
Outerchr3:132387762..132423041hg19UCSC Ensembl
Outerchr3:133870452..133905731hg18UCSC Ensembl
Outerchr3:133870460..133905739hg17UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg384470
hg194470
hg184470
hg174470
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3198
SamplesNA12878
Known GenesNPHP3, NPHP3-ACAD11, UBA5
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)nsv4014
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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