A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv842n27



Internal ID20133100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:143848626..144177097hg38UCSC Ensembl
chr7:143545719..143874190hg19UCSC Ensembl
chr7:143176652..143505123hg18UCSC Ensembl
chr7:142983367..143311838hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38328472
hg19328472
hg18328472
hg17328472
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465178, nsv465181, nsv465179
SamplesHGDP00013, HGDP01293, NINDS_149
Known GenesFAM115A, OR2A12, OR2A14, OR2A2, OR2A25, OR2A5, OR2F1, OR2F2, OR6B1
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)dgv842n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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