A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576056



Internal ID16016779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:76384705..76385474hg38UCSC Ensembl
Innerchr17:74380786..74381555hg19UCSC Ensembl
Innerchr17:71892381..71893150hg18UCSC Ensembl
Cytoband17q25.1
Allele length
AssemblyAllele length
hg38770
hg19770
hg18770
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5781n54
Supporting Variantsnssv876190
Samples
Known GenesSPHK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576056
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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