A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4872



Internal ID15543005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:154892025..154894336hg38UCSC Ensembl
Outerchr5:154271585..154273896hg19UCSC Ensembl
Outerchr5:154251778..154254089hg18UCSC Ensembl
Outerchr5:154251778..154254089hg17UCSC Ensembl
Cytoband5q33.2
Allele length
AssemblyAllele length
hg3828253
hg1928253
hg1828253
hg1728253
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv5081
Supporting Variants
SamplesNA19129
Known GenesGEMIN5
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)nssv4872
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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