A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv570988



Internal ID16358397
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:554554..611142hg38UCSC Ensembl
Innerchr16:604554..661142hg19UCSC Ensembl
Innerchr16:544555..601143hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3856589
hg1956589
hg1856589
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1149275
SamplesNINDS_149
Known GenesC16orf11, CAPN15, NHLRC4, PIGQ, RAB40C
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv570988
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