A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535873



Internal ID15157075
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:58868776..58915193hg38UCSC Ensembl
Innerchr20:57443831..57490248hg19UCSC Ensembl
Innerchr20:56877226..56923643hg18UCSC Ensembl
Innerchr20:56877226..56923643hg17UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg3846418
hg1946418
hg1846418
hg1746418
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459032
Supporting Variants
Samples1780862414_A
Known GenesGNAS
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)nssv535873
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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