A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv468439



Internal ID15181818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:236128593..236146724hg38UCSC Ensembl
Innerchr1:236291893..236310024hg19UCSC Ensembl
Innerchr1:234358516..234376647hg18UCSC Ensembl
Innerchr1:232617934..232636065hg17UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3818132
hg1918132
hg1818132
hg1718132
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv543558
Samples1780862101_A
Known GenesGPR137B
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)nsv468439
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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