A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461319



Internal ID15521384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:32152539..32263375hg38UCSC Ensembl
Innerchr4:32154161..32264997hg19UCSC Ensembl
Innerchr4:31798059..31908895hg18UCSC Ensembl
Innerchr4:31944230..32055066hg17UCSC Ensembl
Cytoband4p15.1
Allele length
AssemblyAllele length
hg38110837
hg19110837
hg18110837
hg17110837
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537724
SamplesNINDS_194
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)nsv461319
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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