A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576059



Internal ID16016782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76384705..76385653hg38UCSC Ensembl
Innerchr17:74380786..74381734hg19UCSC Ensembl
Innerchr17:71892381..71893329hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38949
hg19949
hg18949
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5782n54
Supporting Variantsnssv876203, nssv876200, nssv876204, nssv876202, nssv876201, nssv876199, nssv876205
Samples
Known GenesSPHK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576059
Frequency
Sample Size17421
Observed Gain6
Observed Loss1
Observed Complex0
Frequencyn/a


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