A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3019037



Internal ID15214854
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50696243..50696243hg38UCSC Ensembl
chr17:48773604..48773604hg19UCSC Ensembl
chr17:46128603..46128603hg18UCSC Ensembl
chr17:46128603..46128603hg17UCSC Ensembl
Cytoband17q21.33
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 Variantsnsv474026
Supporting Variants
SamplesNA12156
Known GenesANKRD40
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)nssv3019037
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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