A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541650



Internal ID15160493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142574660..142612823hg38UCSC Ensembl
Innerchr8:143656021..143694184hg19UCSC Ensembl
Innerchr8:143653023..143691186hg18UCSC Ensembl
Innerchr8:143653023..143691186hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3838164
hg1938164
hg1838164
hg1738164
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465990
Supporting Variants
SamplesHGDP00619
Known GenesARC
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)nssv541650
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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