A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535926



Internal ID15502264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:15584547..15772692hg38UCSC Ensembl
Innerchr21:16956866..17145011hg19UCSC Ensembl
Innerchr21:15878737..16066882hg18UCSC Ensembl
Innerchr21:15878737..16066882hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38188146
hg19188146
hg18188146
hg17188146
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459099
Supporting Variants
Samples1780854261_A
Known GenesUSP25
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)nssv535926
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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