A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3998



Internal ID15201977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:129488056..129532365hg38UCSC Ensembl
Outerchr3:129206899..129251208hg19UCSC Ensembl
Outerchr3:130689589..130733898hg18UCSC Ensembl
Outerchr3:130689597..130733906hg17UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3844310
hg1944310
hg1844310
hg1744310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2413
SamplesNA18555
Known GenesIFT122, RHO
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)nsv3998
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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