A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv843n27



Internal ID18991853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:146528356..146560229hg38UCSC Ensembl
chr7:146225448..146257321hg19UCSC Ensembl
chr7:145856381..145888254hg18UCSC Ensembl
chr7:145663096..145694969hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg3831874
hg1931874
hg1831874
hg1731874
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465190, nsv465188, nsv465189, nsv465187
SamplesHGDP01058, 1780854393_A, 1780862260_A, 1780854296_A
Known GenesCNTNAP2
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)dgv843n27
Frequency
Sample Size1557
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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