A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv534393



Internal ID15160467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:50478671..50892386hg38UCSC Ensembl
Innerchr15:50770868..51184583hg19UCSC Ensembl
Innerchr15:48558160..48971875hg18UCSC Ensembl
Innerchr15:48558160..48971875hg17UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38413716
hg19413716
hg18413716
hg17413716
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv457134
Supporting Variants
SamplesHGDP00614
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)nssv534393
Frequency
Sample Size1557
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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