A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv536039



Internal ID15509948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:28311144..28467072hg38UCSC Ensembl
Innerchr21:29683463..29839393hg19UCSC Ensembl
Innerchr21:28605334..28761264hg18UCSC Ensembl
Innerchr21:28605334..28761264hg17UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg38155929
hg19155931
hg18155931
hg17155931
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459234
Supporting Variants
SamplesHGDP01162
Known Genes
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)nssv536039
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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