A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv460914



Internal ID15520979
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:154617173..154736740hg38UCSC Ensembl
Innerchr3:154334962..154454529hg19UCSC Ensembl
Innerchr3:155817656..155937223hg18UCSC Ensembl
Innerchr3:155817664..155937231hg17UCSC Ensembl
Cytoband3q25.2
Allele length
AssemblyAllele length
hg38119568
hg19119568
hg18119568
hg17119568
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv537393
SamplesHGDP00941
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)nsv460914
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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