A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4040



Internal ID15548710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:142930304..142956910hg38UCSC Ensembl
Outerchr3:142649146..142675752hg19UCSC Ensembl
Outerchr3:144131836..144158442hg18UCSC Ensembl
Outerchr3:144131844..144158450hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg3826607
hg1926607
hg1826607
hg1726607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7875
SamplesNA12156
Known GenesLOC100507389
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)nsv4040
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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