A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv539844



Internal ID15164135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151360691..151440704hg38UCSC Ensembl
Innerchr1:151333167..151413180hg19UCSC Ensembl
Innerchr1:149599791..149679804hg18UCSC Ensembl
Innerchr1:148146240..148226253hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3880014
hg1980014
hg1880014
hg1780014
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv463827
Supporting Variants
SamplesHGDP01305
Known GenesPOGZ, PSMB4, SELENBP1
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)nssv539844
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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