A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4046



Internal ID15202030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:145975462..146162402hg38UCSC Ensembl
Outerchr3:145693249..145880189hg19UCSC Ensembl
Outerchr3:147175939..147362879hg18UCSC Ensembl
Outerchr3:147175947..147362887hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38186941
hg19186941
hg18186941
hg17186941
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9384
SamplesNA18517
Known GenesPLOD2
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)nsv4046
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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