A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556995



Internal ID15997718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:1640739..1660764hg38UCSC Ensembl
Innerchr12:1749905..1769930hg19UCSC Ensembl
Innerchr12:1620166..1640191hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3820026
hg1920026
hg1820026
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv786382
Samples
Known GenesMIR3649, WNT5B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556995
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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