A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1320



Internal ID15197713
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:72115458..72149953hg38UCSC Ensembl
Outerchr16:72149357..72183852hg19UCSC Ensembl
Outerchr16:70706858..70741353hg18UCSC Ensembl
Outerchr16:70706858..70741353hg17UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg386502
hg196502
hg186502
hg176502
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1865
Supporting Variants
SamplesNA19240
Known GenesPMFBP1
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)nssv1320
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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