A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575661



Internal ID16016384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:54910871..54982748hg38UCSC Ensembl
Innerchr17:52988232..53060109hg19UCSC Ensembl
Innerchr17:50343231..50415108hg18UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg3871878
hg1971878
hg1871878
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150569
Samples1780854128_A
Known GenesCOX11, STXBP4, TOM1L1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575661
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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