A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059577



Internal ID18802108
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:89808798..89837105hg38UCSC Ensembl
Innerchr16:89875206..89903513hg19UCSC Ensembl
Innerchr16:88402707..88431014hg18UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3828308
hg1928308
hg1828308
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3719127, nssv3560009, nssv3719126
Samples
Known GenesFANCA, SPIRE2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059577
Frequency
Sample Size29084
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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