A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541322



Internal ID15507251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:14504729..14796607hg38UCSC Ensembl
Innerchr8:14362238..14654116hg19UCSC Ensembl
Innerchr8:14406609..14698487hg18UCSC Ensembl
Innerchr8:14406609..14698487hg17UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38291879
hg19291879
hg18291879
hg17291879
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465531
Supporting Variants
SamplesHGDP00631
Known GenesSGCZ
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)nssv541322
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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