A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575075



Internal ID16362484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44218610..44221422hg38UCSC Ensembl
Innerchr17:42295978..42298790hg19UCSC Ensembl
Innerchr17:39651504..39654316hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg382813
hg192813
hg182813
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5602n54
Supporting Variantsnssv872194, nssv872195, nssv872196, nssv872197
Samples
Known GenesUBTF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575075
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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