A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575888



Internal ID16363297
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66074410..66184280hg38UCSC Ensembl
Innerchr17:64070528..64180398hg19UCSC Ensembl
Innerchr17:61500990..61610860hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg38109871
hg19109871
hg18109871
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5749n54
Supporting Variantsnssv875833, nssv875835, nssv875834
Samples
Known GenesCEP112
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575888
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer