A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4750



Internal ID15196535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:69593181..69638377hg38UCSC Ensembl
Outerchr4:70458899..70504095hg19UCSC Ensembl
Outerchr4:70493488..70538684hg18UCSC Ensembl
Outerchr4:70639659..70684855hg17UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg3845197
hg1945197
hg1845197
hg1745197
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv4377
Supporting Variants
SamplesNA19129
Known GenesUGT2A1, UGT2A2
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)nssv4750
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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