A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469184



Internal ID15529249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:28383884..28443396hg38UCSC Ensembl
Innerchr12:28536817..28596329hg19UCSC Ensembl
Innerchr12:28428084..28487596hg18UCSC Ensembl
Innerchr12:28428084..28487596hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3859513
hg1959513
hg1859513
hg1759513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv190n27
Supporting Variantsnssv544145
SamplesHGDP01385
Known GenesCCDC91
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)nsv469184
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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