A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465942



Internal ID15179321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:139690941..139729611hg38UCSC Ensembl
Innerchr8:140703184..140741854hg19UCSC Ensembl
Innerchr8:140772366..140811036hg18UCSC Ensembl
Innerchr8:140772366..140811036hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3838671
hg1938671
hg1838671
hg1738671
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541617
Samples1780862093_A
Known GenesKCNK9
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)nsv465942
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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