A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv447



Internal ID15544894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:699259..816016hg38UCSC Ensembl
Outerchr5:699374..816131hg19UCSC Ensembl
Outerchr5:752374..869131hg18UCSC Ensembl
Outerchr5:752374..869131hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38116758
hg19116758
hg18116758
hg17116758
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4675
Supporting Variants
SamplesNA19240
Known GenesZDHHC11
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)nssv447
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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