A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571623



Internal ID16012346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21084049..21341186hg38UCSC Ensembl
Innerchr16:21095370..21352507hg19UCSC Ensembl
Innerchr16:21002871..21260008hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38257138
hg19257138
hg18257138
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv853081
Samples
Known GenesANKS4B, CRYM, CRYM-AS1, DNAH3, TMEM159, ZP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571623
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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