A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5061



Internal ID15549833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:149754391..149786392hg38UCSC Ensembl
Outerchr5:149133954..149165955hg19UCSC Ensembl
Outerchr5:149114147..149146148hg18UCSC Ensembl
Outerchr5:149114147..149146148hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg387433
hg197433
hg187433
hg177433
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6031
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)nsv5061
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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