A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3719975



Internal ID18671570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:18957985..19190235hg38UCSC Ensembl
Innerchr17:18861298..19093548hg19UCSC Ensembl
Innerchr17:18802023..19034141hg18UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg38232251
hg19232251
hg18232119
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1059296
Supporting Variants
Samples
Known GenesFAM83G, GRAP, GRAPL, SLC5A10
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3719975
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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