A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3016033



Internal ID15568426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:47744006..47744006hg38UCSC Ensembl
chr16:47777917..47777917hg19UCSC Ensembl
chr16:46335418..46335418hg18UCSC Ensembl
chr16:46335418..46335418hg17UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsnsv475251
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
AnalysisSearch fosmid ESPs as described in Tuzun et al (2005)
PlatformAgilent Custom Human 244K CGH Array
CommentsOEA singleton. The coordinate provided is from the mappable member of a fosmid end sequence pair, and indicates the genomic vicinity of a novel sequence insertion
ReferenceKidd_et_al_2010
Pubmed ID20440878
Accession Number(s)nssv3016033
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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