A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063647



Internal ID18806178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:53210111..53251875hg38UCSC Ensembl
Innerchr16:53244023..53285787hg19UCSC Ensembl
Innerchr16:51801524..51843288hg18UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3841765
hg1941765
hg1841765
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3559262
Samples
Known GenesCHD9
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063647
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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