A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv506



Internal ID15198320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:151773001..151782497hg38UCSC Ensembl
Outerchr5:151152562..151162058hg19UCSC Ensembl
Outerchr5:151132755..151142251hg18UCSC Ensembl
Outerchr5:151132755..151142251hg17UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg388396
hg198396
hg188396
hg178396
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5070
Supporting Variants
SamplesNA19240
Known GenesG3BP1
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)nssv506
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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