A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv541034



Internal ID15164066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:143848626..144177097hg38UCSC Ensembl
Innerchr7:143545719..143874190hg19UCSC Ensembl
Innerchr7:143176652..143505123hg18UCSC Ensembl
Innerchr7:142983367..143311838hg17UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38328472
hg19328472
hg18328472
hg17328472
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv465179
Supporting Variants
SamplesHGDP01293
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)nssv541034
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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