A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575042



Internal ID16362451
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:42266938..42273858hg38UCSC Ensembl
Innerchr17:40418956..40425876hg19UCSC Ensembl
Innerchr17:37672482..37679402hg18UCSC Ensembl
Cytoband17q21.2
Allele length
AssemblyAllele length
hg386921
hg196921
hg186921
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv871845, nssv871846
Samples
Known GenesSTAT5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575042
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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