A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465803



Internal ID15179182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:125055955..125120574hg38UCSC Ensembl
Innerchr8:126068197..126132816hg19UCSC Ensembl
Innerchr8:126137379..126201998hg18UCSC Ensembl
Innerchr8:126137379..126201998hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3864620
hg1964620
hg1864620
hg1764620
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541535
SamplesHGDP01418
Known GenesKIAA0196, NSMCE2
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)nsv465803
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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