A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469178



Internal ID15182557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27695850..27762012hg38UCSC Ensembl
Innerchr12:27848783..27914945hg19UCSC Ensembl
Innerchr12:27740050..27806212hg18UCSC Ensembl
Innerchr12:27740050..27806212hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3866163
hg1966163
hg1866163
hg1766163
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv544140
Samples1780862457_A
Known GenesMRPS35, REP15
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)nsv469178
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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