A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv457246



Internal ID15170625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:90282201..90455896hg38UCSC Ensembl
Innerchr15:90825433..90999128hg19UCSC Ensembl
Innerchr15:88626437..88800132hg18UCSC Ensembl
Innerchr15:88626437..88800132hg17UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg38173696
hg19173696
hg18173696
hg17173696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv534478
Samples1798860114_A
Known GenesGABARAPL3, IQGAP1, ZNF774
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)nsv457246
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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