A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465729



Internal ID15525794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:83307039..83414840hg38UCSC Ensembl
Innerchr8:84219274..84327075hg19UCSC Ensembl
Innerchr8:84381829..84489630hg18UCSC Ensembl
Innerchr8:84381829..84489630hg17UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg38107802
hg19107802
hg18107802
hg17107802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541479
Samples1782681115_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)nsv465729
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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