A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv540522



Internal ID15509196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:90504613..90589032hg38UCSC Ensembl
Innerchr7:90133927..90218346hg19UCSC Ensembl
Innerchr7:89971863..90056282hg18UCSC Ensembl
Innerchr7:89778578..89862997hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3884420
hg1984420
hg1884420
hg1784420
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv464634
Supporting Variants
SamplesHGDP00956
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)nssv540522
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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