A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv465989



Internal ID15179368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:142572003..142601506hg38UCSC Ensembl
Innerchr8:143653364..143682867hg19UCSC Ensembl
Innerchr8:143650366..143679869hg18UCSC Ensembl
Innerchr8:143650366..143679869hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3829504
hg1929504
hg1829504
hg1729504
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv904n27
Supporting Variantsnssv541649
SamplesHGDP00607
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)nsv465989
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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