A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv2997361



Internal ID16943627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116247296..116285095hg38UCSC Ensembl
Outerchr12:116685101..116722900hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg3837800
hg1937800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv952489
Supporting Variants
SamplesBILGI_BIOE
Known GenesMED13L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nssv2997361
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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