A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534458



Internal ID15511735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84913115..84922642hg38UCSC Ensembl
Innerchr15:85456346..85465873hg19UCSC Ensembl
Innerchr15:83257350..83266877hg18UCSC Ensembl
Innerchr15:83257350..83266877hg17UCSC Ensembl
Cytoband15q25.3
Allele length
AssemblyAllele length
hg389528
hg199528
hg189528
hg179528
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457223
Supporting Variants
SamplesNINDS_136
Known GenesSLC28A1
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)nssv534458
Frequency
Sample Size1557
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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