A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14092830



Internal ID21269308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:123970028..123974912hg38UCSC Ensembl
Innerchr12:124454575..124459459hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384885
hg194885
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3115868
Supporting Variants
Samplessample138
Known GenesCCDC92, ZNF664, ZNF664-FAM101A
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14092830
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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