A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1131046



Internal ID18907432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:116276795..116278195hg38UCSC Ensembl
Outerchr12:116714600..116716000hg19UCSC Ensembl
Cytoband12q24.21
Allele length
AssemblyAllele length
hg381401
hg191401
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv875n106
Supporting Variantsnssv3967751
SamplesKWS2
Known GenesMED13L
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1131046
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