A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv542035



Internal ID15158211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:12774110..12852235hg38UCSC Ensembl
Innerchr1:12834253..12912088hg19UCSC Ensembl
Innerchr1:12756840..12834675hg18UCSC Ensembl
Innerchr1:12768519..12846354hg17UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg3878126
hg1977836
hg1877836
hg1777836
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv466505
Supporting Variants
Samples1798860570_A
Known GenesHNRNPCL1, LOC649330, PRAMEF1, PRAMEF11, PRAMEF12
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)nssv542035
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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