A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952177



Internal ID16954364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:49641618..49653517hg38UCSC Ensembl
Outerchr12:50035401..50047300hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg3811900
hg1911900
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999726
SamplesBILGI_BIOE
Known GenesFMNL3, PRPF40B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952177
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