A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541269



Internal ID15505229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:13617769..13669212hg38UCSC Ensembl
Innerchr8:13475278..13526721hg19UCSC Ensembl
Innerchr8:13519649..13571092hg18UCSC Ensembl
Innerchr8:13519649..13571092hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3851444
hg1951444
hg1851444
hg1751444
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465475
Supporting Variants
SamplesHGDP00080
Known Genes
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)nssv541269
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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