A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3016611



Internal ID15214867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:49798257..49798257hg38UCSC Ensembl
chr18:47324627..47324627hg19UCSC Ensembl
chr18:45578625..45578625hg18UCSC Ensembl
chr18:45578625..45578625hg17UCSC Ensembl
Cytoband18q21.1
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 Variantsnsv473929
Supporting Variants
SamplesNA12156
Known GenesACAA2
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)nssv3016611
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