A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469470



Internal ID15529535
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:74135050..74202472hg38UCSC Ensembl
Innerchr12:74528830..74596252hg19UCSC Ensembl
Innerchr12:72815097..72882519hg18UCSC Ensembl
Innerchr12:72815097..72882519hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3867423
hg1967423
hg1867423
hg1767423
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544330
SamplesHGDP00133
Known GenesLOC100507377
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)nsv469470
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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