A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3204



Internal ID15537932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:145252032..145275471hg38UCSC Ensembl
Outerchr3:144969819..144993258hg19UCSC Ensembl
Outerchr3:146452509..146475948hg18UCSC Ensembl
Outerchr3:146452517..146475956hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg388291
hg198291
hg188291
hg178291
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4045
Supporting Variants
SamplesNA12878
Known Genes
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)nssv3204
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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