A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv543085



Internal ID15156771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12800601..12852235hg38UCSC Ensembl
Innerchr1:12860749..12912088hg19UCSC Ensembl
Innerchr1:12783336..12834675hg18UCSC Ensembl
Innerchr1:12795015..12846354hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3851635
hg1951340
hg1851340
hg1751340
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv467949
Supporting Variants
Samples1780862294_A
Known GenesHNRNPCL1, LOC649330, PRAMEF11
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)nssv543085
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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