A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv952781



Internal ID16954968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:757835..767334hg38UCSC Ensembl
Outerchr12:867001..876500hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg389500
hg199500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv41n73
Supporting Variantsnssv2999662
SamplesBILGI_BIOE
Known GenesWNK1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)nsv952781
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