A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2553



Internal ID15540567
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150821734..150853767hg38UCSC Ensembl
Outerchr5:150201296..150233329hg19UCSC Ensembl
Outerchr5:150181489..150213522hg18UCSC Ensembl
Outerchr5:150181489..150213522hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3832034
hg1932034
hg1832034
hg1732034
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5067
Supporting Variants
SamplesNA18555
Known GenesIRGM
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)nssv2553
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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