A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469484



Internal ID15529549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:78085837..78111067hg38UCSC Ensembl
Innerchr12:78479617..78504847hg19UCSC Ensembl
Innerchr12:77003748..77028978hg18UCSC Ensembl
Innerchr12:76982085..77007315hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3825231
hg1925231
hg1825231
hg1725231
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv206n27
Supporting Variantsnssv544342
Samples1780862126_A
Known GenesNAV3
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)nsv469484
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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