A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535929



Internal ID15513054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:17985062..18008815hg38UCSC Ensembl
Innerchr21:19357379..19381132hg19UCSC Ensembl
Innerchr21:18279250..18303003hg18UCSC Ensembl
Innerchr21:18279250..18303003hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg3823754
hg1923754
hg1823754
hg1723754
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459104
Supporting Variants
SamplesNINDS_99
Known GenesCHODL
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)nssv535929
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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