A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1955



Internal ID15546518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:5288751..5333334hg38UCSC Ensembl
Outerchr17:5192046..5236629hg19UCSC Ensembl
Outerchr17:5132770..5177353hg18UCSC Ensembl
Outerchr17:5132770..5177353hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3844584
hg1944584
hg1844584
hg1744584
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2159
SamplesNA18555
Known GenesRABEP1
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)nsv1955
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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