A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536068



Internal ID15165502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43403599..43419802hg38UCSC Ensembl
Innerchr21:44823479..44839682hg19UCSC Ensembl
Innerchr21:43647907..43664110hg18UCSC Ensembl
Innerchr21:43647907..43664110hg17UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3816204
hg1916204
hg1816204
hg1716204
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459282
Supporting Variants
SamplesNINDS_211
Known GenesSIK1
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)nssv536068
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer