A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3095



Internal ID15540880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:50654601..50668960hg38UCSC Ensembl
Outerchr3:50692032..50706391hg19UCSC Ensembl
Outerchr3:50667036..50681395hg18UCSC Ensembl
Outerchr3:50667036..50681395hg17UCSC Ensembl
Cytoband3p21.2
Allele length
AssemblyAllele length
hg387187
hg197187
hg187187
hg177187
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3815
Supporting Variants
SamplesNA18555
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)nssv3095
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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