A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4148



Internal ID15202142
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:185592906..185625116hg38UCSC Ensembl
Outerchr3:185310694..185342904hg19UCSC Ensembl
Outerchr3:186793388..186825598hg18UCSC Ensembl
Outerchr3:186793396..186825606hg17UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg387293
hg197293
hg187293
hg177293
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv10381
SamplesNA18956
Known GenesSENP2
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)nsv4148
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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