A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv469177



Internal ID15529242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27602525..27679375hg38UCSC Ensembl
Innerchr12:27755458..27832308hg19UCSC Ensembl
Innerchr12:27646725..27723575hg18UCSC Ensembl
Innerchr12:27646725..27723575hg17UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3876851
hg1976851
hg1876851
hg1776851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv189n27
Supporting Variantsnssv544139
SamplesHGDP00693
Known GenesPPFIBP1
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)nsv469177
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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