A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064561



Internal ID18807092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:25714853..25750046hg38UCSC Ensembl
Innerchr21:27087165..27122357hg19UCSC Ensembl
Innerchr21:26009036..26044228hg18UCSC Ensembl
Cytoband21q21.3
Allele length
AssemblyAllele length
hg3835194
hg1935193
hg1835193
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600083
Samples
Known GenesATP5J, GABPA, JAM2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064561
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