A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541533



Internal ID15161862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:124553087..124564440hg38UCSC Ensembl
Innerchr8:125565328..125576681hg19UCSC Ensembl
Innerchr8:125634509..125645862hg18UCSC Ensembl
Innerchr8:125634509..125645862hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3811354
hg1911354
hg1811354
hg1711354
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465801
Supporting Variants
SamplesHGDP00862
Known GenesMTSS1
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)nssv541533
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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