A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv872163



Internal ID16166119
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44218610..44220434hg38UCSC Ensembl
Innerchr17:42295978..42297802hg19UCSC Ensembl
Innerchr17:39651504..39653328hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381825
hg191825
hg181825
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv575071
Supporting Variants
Samples
Known GenesUBTF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv872163
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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