A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540283



Internal ID15505547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:9718126..10008904hg38UCSC Ensembl
Innerchr7:9757755..10048531hg19UCSC Ensembl
Innerchr7:9724280..10015056hg18UCSC Ensembl
Innerchr7:9530995..9821771hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38290779
hg19290777
hg18290777
hg17290777
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464354
Supporting Variants
SamplesHGDP00151
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)nssv540283
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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