A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540080



Internal ID15156111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162176920..162686065hg38UCSC Ensembl
Innerchr6:162597952..163107097hg19UCSC Ensembl
Innerchr6:162517942..163027087hg18UCSC Ensembl
Innerchr6:162568363..163077508hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38509146
hg19509146
hg18509146
hg17509146
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464094
Supporting Variants
Samples1780854537_A
Known GenesPARK2
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)nssv540080
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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