A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556912



Internal ID16344321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:757691..763196hg38UCSC Ensembl
Innerchr12:866857..872362hg19UCSC Ensembl
Innerchr12:737118..742623hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg385506
hg195506
hg185506
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2258n54
Supporting Variantsnssv785899, nssv785898
Samples
Known GenesWNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556912
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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