A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541627



Internal ID15507773
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:141323326..141378155hg38UCSC Ensembl
Innerchr8:142333425..142388255hg19UCSC Ensembl
Innerchr8:142402607..142457437hg18UCSC Ensembl
Innerchr8:142402607..142457437hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3854830
hg1954831
hg1854831
hg1754831
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465957
Supporting Variants
SamplesHGDP00713
Known GenesGPR20, LOC731779
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)nssv541627
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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