A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534030



Internal ID15511673
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:29886411..30074044hg38UCSC Ensembl
Innerchr15:30178614..30366247hg19UCSC Ensembl
Innerchr15:27965906..28153539hg18UCSC Ensembl
Innerchr15:27965906..28153539hg17UCSC Ensembl
Cytoband15q13.1
Allele length
AssemblyAllele length
hg38187634
hg19187634
hg18187634
hg17187634
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv456739
Supporting Variants
SamplesNINDS_129
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)nssv534030
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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