A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2947



Internal ID15194919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2851745..2864333hg38UCSC Ensembl
Outerchr16:2901746..2914334hg19UCSC Ensembl
Outerchr16:2841747..2854335hg18UCSC Ensembl
Outerchr16:2841747..2854335hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg386095
hg196095
hg186095
hg176095
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv1712
Supporting Variants
SamplesNA18555
Known GenesPRSS22
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)nssv2947
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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