A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535903



Internal ID15506207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62327333..62411193hg38UCSC Ensembl
Innerchr20:60902389..60986249hg19UCSC Ensembl
Innerchr20:60335784..60419644hg18UCSC Ensembl
Innerchr20:60335784..60419644hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3883861
hg1983861
hg1883861
hg1783861
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459062
Supporting Variants
SamplesHGDP00433
Known GenesCABLES2, LAMA5, MIR4758, RBBP8NL, RPS21
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)nssv535903
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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