A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv535726



Internal ID15165629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:602943..625293hg38UCSC Ensembl
Innerchr20:583587..605937hg19UCSC Ensembl
Innerchr20:531587..553937hg18UCSC Ensembl
Innerchr20:531587..553937hg17UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3822351
hg1922351
hg1822351
hg1722351
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv458845
Supporting Variants
SamplesNINDS_23
Known GenesTCF15
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)nssv535726
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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