A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541617



Internal ID15156469
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 Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465942
Supporting Variants
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)nssv541617
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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