A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575067



Internal ID16362476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:44207979..44221613hg38UCSC Ensembl
Innerchr17:42285347..42298981hg19UCSC Ensembl
Innerchr17:39640873..39654507hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg3813635
hg1913635
hg1813635
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv872155
Samples
Known GenesUBTF
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575067
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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