A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3323



Internal ID15538051
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:6423513..6458767hg38UCSC Ensembl
Outerchr5:6423626..6458880hg19UCSC Ensembl
Outerchr5:6476626..6511880hg18UCSC Ensembl
Outerchr5:6476626..6511880hg17UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg384489
hg194489
hg184489
hg174489
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4694
Supporting Variants
SamplesNA12878
Known GenesUBE2QL1
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)nssv3323
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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