A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541628



Internal ID15506132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:141326581..141448932hg38UCSC Ensembl
Innerchr8:142336680..142459032hg19UCSC Ensembl
Innerchr8:142405862..142528214hg18UCSC Ensembl
Innerchr8:142405862..142528214hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38122352
hg19122353
hg18122353
hg17122353
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465958
Supporting Variants
SamplesHGDP00402
Known GenesGPR20, LOC731779, MROH5, PTP4A3
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)nssv541628
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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