A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534394



Internal ID15160472
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:50478671..50897510hg38UCSC Ensembl
Innerchr15:50770868..51189707hg19UCSC Ensembl
Innerchr15:48558160..48976999hg18UCSC Ensembl
Innerchr15:48558160..48976999hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38418840
hg19418840
hg18418840
hg17418840
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457135
Supporting Variants
SamplesHGDP00615
Known GenesSPPL2A, TRPM7, USP50, USP8
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)nssv534394
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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