A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535776



Internal ID15164904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:14868013..14986860hg38UCSC Ensembl
Innerchr20:14848659..14967506hg19UCSC Ensembl
Innerchr20:14796659..14915506hg18UCSC Ensembl
Innerchr20:14796659..14915506hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38118848
hg19118848
hg18118848
hg17118848
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458916
Supporting Variants
SamplesNINDS_117
Known GenesMACROD2, MACROD2-AS1
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)nssv535776
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