A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465924



Internal ID15525989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675987..136866822hg38UCSC Ensembl
Innerchr8:137688230..137879065hg19UCSC Ensembl
Innerchr8:137757412..137948247hg18UCSC Ensembl
Innerchr8:137757412..137948247hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38190836
hg19190836
hg18190836
hg17190836
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv898n27
Supporting Variantsnssv541604
Samples1780854566_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)nsv465924
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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