A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465741



Internal ID15525806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:95208894..95235607hg38UCSC Ensembl
Innerchr8:96221122..96247835hg19UCSC Ensembl
Innerchr8:96290298..96317011hg18UCSC Ensembl
Innerchr8:96290298..96317011hg17UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3826714
hg1926714
hg1826714
hg1726714
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541489
SamplesHGDP00757
Known GenesC8orf69
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)nsv465741
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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