A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541664



Internal ID15162471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143917935..144161320hg38UCSC Ensembl
Innerchr8:144992103..145216223hg19UCSC Ensembl
Innerchr8:145064091..145288211hg18UCSC Ensembl
Innerchr8:145064091..145288211hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38243386
hg19224121
hg18224121
hg17224121
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466013
Supporting Variants
SamplesHGDP00950
Known GenesCYC1, EXOSC4, FAM203A, GPAA1, GRINA, KIAA1875, MAF1, MIR661, MIR6846, MIR6847, MROH1, OPLAH, PARP10, PLEC, 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)nssv541664
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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