A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5994



Internal ID15537870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42157496..42201927hg38UCSC Ensembl
Outerchr5:42157598..42202029hg19UCSC Ensembl
Outerchr5:42193355..42237786hg18UCSC Ensembl
Outerchr5:42193355..42237786hg17UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3844432
hg1944432
hg1844432
hg1744432
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4813
Supporting Variants
SamplesNA12156
Known GenesLOC101926960
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)nssv5994
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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