A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465864



Internal ID15525929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675712..136837820hg38UCSC Ensembl
Innerchr8:137687955..137850063hg19UCSC Ensembl
Innerchr8:137757137..137919245hg18UCSC Ensembl
Innerchr8:137757137..137919245hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38162109
hg19162109
hg18162109
hg17162109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv898n27
Supporting Variantsnssv541582
Samples1780862452_A
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)nsv465864
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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