A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv475367



Internal ID15228119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:65547215..65547215hg38UCSC Ensembl
chr4:66412933..66412933hg19UCSC Ensembl
chr4:66095528..66095528hg18UCSC Ensembl
chr4:66241699..66241699hg17UCSC Ensembl
Cytoband4q13.1
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 Variantsnssv3017226
SamplesNA19240
Known GenesEPHA5
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)nsv475367
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