A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535863



Internal ID15157764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54031829..54036948hg38UCSC Ensembl
Innerchr20:52648368..52653487hg19UCSC Ensembl
Innerchr20:52081775..52086894hg18UCSC Ensembl
Innerchr20:52081775..52086894hg17UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg385120
hg195120
hg185120
hg175120
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv459018
Supporting Variants
Samples1782681216_A
Known GenesBCAS1
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)nssv535863
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