A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469366



Internal ID15529431
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:44964021..44992615hg38UCSC Ensembl
Innerchr12:45357804..45386398hg19UCSC Ensembl
Innerchr12:43644071..43672665hg18UCSC Ensembl
Innerchr12:43644071..43672665hg17UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3828595
hg1928595
hg1828595
hg1728595
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv198n27
Supporting Variantsnssv544254
Samples1780862470_A
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)nsv469366
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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