A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3545193



Internal ID18496788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46080109..46138956hg38UCSC Ensembl
Innerchr17:44157475..44216322hg19UCSC Ensembl
Innerchr17:41513294..41572099hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3858848
hg1958848
hg1858806
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1061620
Supporting Variants
Samples
Known GenesKANSL1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3545193
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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