A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575892



Internal ID16363301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66129213..66173677hg38UCSC Ensembl
Innerchr17:64125331..64169795hg19UCSC Ensembl
Innerchr17:61555793..61600257hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3844465
hg1944465
hg1844465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149788
SamplesHGDP00007
Known GenesCEP112
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575892
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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