A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv575883



Internal ID16363292
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66039150..66098393hg38UCSC Ensembl
Innerchr17:64035268..64094511hg19UCSC Ensembl
Innerchr17:61465730..61524973hg18UCSC Ensembl
Cytoband17q24.1
Allele length
AssemblyAllele length
hg3859244
hg1959244
hg1859244
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149785
SamplesHGDP00952
Known GenesCEP112
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv575883
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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