A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3004217



Internal ID16950483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124439130..124439308hg38UCSC Ensembl
Outerchr12:124923676..124923854hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38179
hg19179
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv957930
Supporting Variants
SamplesBILGI_BIOE
Known GenesNCOR2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv3004217
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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