A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv466000



Internal ID15179379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143551386..143582424hg38UCSC Ensembl
Innerchr8:144633556..144664594hg19UCSC Ensembl
Innerchr8:144704699..144735737hg18UCSC Ensembl
Innerchr8:144704699..144735737hg17UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3831039
hg1931039
hg1831039
hg1731039
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv541657
SamplesHGDP00491
Known GenesEEF1D, GSDMD, MROH6, NAPRT1
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)nsv466000
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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