A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv474603



Internal ID15227353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146960671..146960671hg38UCSC Ensembl
chr7:146657763..146657763hg19UCSC Ensembl
chr7:146288696..146288696hg18UCSC Ensembl
chr7:146095411..146095411hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg381
hg191
hg181
hg171
Variant TypeCNV novel sequence insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3015640
SamplesNA18956
Known GenesCNTNAP2
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)nsv474603
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