A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1711



Internal ID15199588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr16:2199093..2232650hg38UCSC Ensembl
Outerchr16:2249094..2282651hg19UCSC Ensembl
Outerchr16:2189095..2222652hg18UCSC Ensembl
Outerchr16:2189095..2222652hg17UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg386470
hg196470
hg186470
hg176470
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2946
SamplesNA18555
Known GenesBRICD5, E4F1, MLST8, PGP
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)nsv1711
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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