A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540339



Internal ID15502400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:32166807..32383787hg38UCSC Ensembl
Innerchr7:32206419..32423399hg19UCSC Ensembl
Innerchr7:32172944..32389924hg18UCSC Ensembl
Innerchr7:31979659..32196639hg17UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38216981
hg19216981
hg18216981
hg17216981
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464421
Supporting Variants
Samples1780854338_A
Known GenesPDE1C
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)nssv540339
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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