A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050385



Internal ID18792916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:50551298..50657601hg38UCSC Ensembl
Innerchr15:50843495..50949798hg19UCSC Ensembl
Innerchr15:48630787..48737090hg18UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38106304
hg19106304
hg18106304
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3552392
Samples
Known GenesTRPM7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050385
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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