A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469193



Internal ID15182572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30980130..30997248hg38UCSC Ensembl
Innerchr12:31133065..31150183hg19UCSC Ensembl
Innerchr12:31024332..31041450hg18UCSC Ensembl
Innerchr12:31024332..31041450hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3817119
hg1917119
hg1817119
hg1717119
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544153
SamplesNINDS_169
Known GenesTSPAN11
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)nsv469193
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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