A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv533361



Internal ID15165864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:25196604..25271605hg38UCSC Ensembl
Innerchr2:25419473..25494474hg19UCSC Ensembl
Innerchr2:25272977..25347978hg18UCSC Ensembl
Innerchr2:25331124..25406125hg17UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3875002
hg1975002
hg1875002
hg1775002
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv455908
Supporting Variants
SamplesNINDS_31
Known GenesDNMT3A
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)nssv533361
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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