A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466009



Internal ID15179388
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143812326..143900795hg38UCSC Ensembl
Innerchr8:144894496..144974963hg19UCSC Ensembl
Innerchr8:144966484..145046951hg18UCSC Ensembl
Innerchr8:144966484..145046951hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3888470
hg1980468
hg1880468
hg1780468
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541661
Samples1780862347_A
Known GenesEPPK1, MIR6845, MIR937, NRBP2, PUF60, SCRIB
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)nsv466009
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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