A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536938



Internal ID15164218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:4093768..4198269hg38UCSC Ensembl
Innerchr3:4135452..4239953hg19UCSC Ensembl
Innerchr3:4110452..4214953hg18UCSC Ensembl
Innerchr3:4110452..4214953hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38104502
hg19104502
hg18104502
hg17104502
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv460346
Supporting Variants
SamplesHGDP01319
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)nssv536938
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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