A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3017726



Internal ID15567149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:135875100..135875100hg38UCSC Ensembl
chr3:135593942..135593942hg19UCSC Ensembl
chr3:137076632..137076632hg18UCSC Ensembl
chr3:137076640..137076640hg17UCSC Ensembl
Cytoband3q22.2
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 Variantsnsv473095
Supporting Variants
SamplesNA19129
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)nssv3017726
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