A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576129



Internal ID16363538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:80104910..80117598hg38UCSC Ensembl
Innerchr17:78078709..78091397hg19UCSC Ensembl
Innerchr17:75693304..75705992hg18UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3812689
hg1912689
hg1812689
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv876897
Samples
Known GenesGAA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576129
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