A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6030



Internal ID15537834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149693490..149739293hg38UCSC Ensembl
Outerchr5:149073053..149118856hg19UCSC Ensembl
Outerchr5:149053246..149099049hg18UCSC Ensembl
Outerchr5:149053246..149099049hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3845804
hg1945804
hg1845804
hg1745804
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5060
Supporting Variants
SamplesNA12156
Known GenesPPARGC1B
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)nssv6030
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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