A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv522n27



Internal ID22767251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63522433..63591039hg38UCSC Ensembl
chr20:62153786..62222392hg19UCSC Ensembl
chr20:61624230..61692836hg18UCSC Ensembl
chr20:61624230..61692836hg17UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg3868607
hg1968607
hg1868607
hg1768607
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459081, nsv459083
SamplesNINDS_60, HGDP00899
Known GenesC20orf195, GMEB2, HELZ2, PTK6, SRMS
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)dgv522n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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