A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576058



Internal ID16016781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76384705..76385582hg38UCSC Ensembl
Innerchr17:74380786..74381663hg19UCSC Ensembl
Innerchr17:71892381..71893258hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38878
hg19878
hg18878
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5782n54
Supporting Variantsnssv876197, nssv876198, nssv876195, nssv876193, nssv876194, nssv876192, nssv876196
Samples
Known GenesSPHK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576058
Frequency
Sample Size17421
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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