A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057473



Internal ID18800004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:11182844..11287592hg38UCSC Ensembl
Innerchr17:11086161..11190909hg19UCSC Ensembl
Innerchr17:11026886..11131634hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg38104749
hg19104749
hg18104749
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719168
Samples
Known GenesSHISA6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057473
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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