A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541665



Internal ID15510030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144007080..144224185hg38UCSC Ensembl
Innerchr8:145081248..145279088hg19UCSC Ensembl
Innerchr8:145153236..145351076hg18UCSC Ensembl
Innerchr8:145153236..145351076hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38217106
hg19197841
hg18197841
hg17197841
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466014
Supporting Variants
SamplesHGDP01177
Known GenesCYC1, EXOSC4, FAM203A, GPAA1, KIAA1875, MAF1, MIR6846, MIR6847, MROH1, OPLAH, SHARPIN, SPATC1
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)nssv541665
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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