A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952197



Internal ID16954384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:65170821..65210720hg38UCSC Ensembl
Outerchr12:65564601..65604500hg19UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3839900
hg1939900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2999745
SamplesBILGI_BIOE
Known GenesLEMD3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952197
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