A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5968



Internal ID15196714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:53286923..53293922hg38UCSC Ensembl
Outerchr3:53320941..53327952hg19UCSC Ensembl
Outerchr3:53295981..53302992hg18UCSC Ensembl
Outerchr3:53295981..53302992hg17UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3828570
hg1928570
hg1828570
hg1728570
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv3825
Supporting Variants
SamplesNA19129
Known GenesDCP1A
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)nssv5968
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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