A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541514



Internal ID15505507
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:114215638..114268612hg38UCSC Ensembl
Innerchr8:115227867..115280841hg19UCSC Ensembl
Innerchr8:115297043..115350017hg18UCSC Ensembl
Innerchr8:115297043..115350017hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg3852975
hg1952975
hg1852975
hg1752975
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsnsv465776
Supporting Variants
SamplesHGDP00144
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)nssv541514
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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