A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv461184



Internal ID15521249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:40881556..40908478hg38UCSC Ensembl
Innerchr1:41347228..41374150hg19UCSC Ensembl
Innerchr1:41119815..41146737hg18UCSC Ensembl
Innerchr1:41016321..41043243hg17UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg3826923
hg1926923
hg1826923
hg1726923
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv16n27
Supporting Variantsnssv537611
Samples1780854436_A
Known Genes
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)nsv461184
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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