A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469412



Internal ID15529477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59110819..59148336hg38UCSC Ensembl
Innerchr12:59504600..59542117hg19UCSC Ensembl
Innerchr12:57790867..57828384hg18UCSC Ensembl
Innerchr12:57790867..57828384hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3837518
hg1937518
hg1837518
hg1737518
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544276
SamplesHGDP00552
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)nsv469412
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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