A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118250



Internal ID18932062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123271053..123272053hg38UCSC Ensembl
Outerchr12:123755600..123756600hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv884n106
Supporting Variantsnssv3980924
SamplesKWS1
Known GenesCDK2AP1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118250
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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