A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv556910



Internal ID16344319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:757691..761924hg38UCSC Ensembl
Innerchr12:866857..871090hg19UCSC Ensembl
Innerchr12:737118..741351hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg384234
hg194234
hg184234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2257n54
Supporting Variantsnssv785895, nssv785896, nssv785894
Samples
Known GenesWNK1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv556910
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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