A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3017290



Internal ID15562890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:56727232..56727232hg38UCSC Ensembl
chr17:54804593..54804593hg19UCSC Ensembl
chr17:52159592..52159592hg18UCSC Ensembl
chr17:52159592..52159592hg17UCSC Ensembl
Cytoband17q22
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 Variantsnsv475934
Supporting Variants
SamplesNA12878
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)nssv3017290
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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