A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv194n27



Internal ID22766923
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31848581..31915943hg38UCSC Ensembl
chr12:32001515..32068877hg19UCSC Ensembl
chr12:31892782..31960144hg18UCSC Ensembl
chr12:31892782..31960144hg17UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3867363
hg1967363
hg1867363
hg1767363
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv469320, nsv469324, nsv469330, nsv469323, nsv469322, nsv469331, nsv469325, nsv469329, nsv469326, nsv469328, nsv469321, nsv469318
SamplesNINDS_146, NINDS_37, HGDP00274, HGDP01299, 1780862459_A, 1780862585_A, NINDS_81, 1780862573_A, NINDS_198, 1780854418_A, 1788485590_A, NINDS_259
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)dgv194n27
Frequency
Sample Size1557
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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