A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3018964



Internal ID15216271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:39110425..39110425hg38UCSC Ensembl
chr17:37266678..37266678hg19UCSC Ensembl
chr17:34520204..34520204hg18UCSC Ensembl
chr17:34520204..34520204hg17UCSC Ensembl
Cytoband17q12
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 Variantsnsv475599
Supporting Variants
SamplesNA12878
Known GenesPLXDC1
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)nssv3018964
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer