A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv463783



Internal ID15177162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:151360691..151432372hg38UCSC Ensembl
Innerchr1:151333167..151404848hg19UCSC Ensembl
Innerchr1:149599791..149671472hg18UCSC Ensembl
Innerchr1:148146240..148217921hg17UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg3871682
hg1971682
hg1871682
hg1771682
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv36n27
Supporting Variantsnssv539800
SamplesHGDP00964
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)nsv463783
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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