A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3561053



Internal ID18512648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:31892481..32005581hg38UCSC Ensembl
Innerchr17:30219500..30332600hg19UCSC Ensembl
Innerchr17:27243613..27356713hg18UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg38113101
hg19113101
hg18113101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1067240
Supporting Variants
Samples
Known GenesSUZ12, UTP6
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3561053
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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