A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483036



Internal ID15582149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:11288694..11500124hg38UCSC Ensembl
Innerchr17:11192011..11403441hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38211431
hg19211431
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996134
Samples
Known GenesSHISA6
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483036
Frequency
Sample Size39
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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