A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv505



Internal ID15545008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150794422..150853403hg38UCSC Ensembl
Outerchr5:150173984..150232965hg19UCSC Ensembl
Outerchr5:150154177..150213158hg18UCSC Ensembl
Outerchr5:150154177..150213158hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg3858982
hg1958982
hg1858982
hg1758982
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5067
Supporting Variants
SamplesNA19240
Known GenesIRGM, SMIM3
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)nssv505
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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