A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557844



Internal ID16345253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27779952..27780963hg38UCSC Ensembl
Innerchr12:27932885..27933896hg19UCSC Ensembl
Innerchr12:27824152..27825163hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381012
hg191012
hg181012
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2425n54
Supporting Variantsnssv790047, nssv790055, nssv790053, nssv790050, nssv790049, nssv790052, nssv790054, nssv790048, nssv790057, nssv790059, nssv790058, nssv790056, nssv790051
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557844
Frequency
Sample Size17421
Observed Gain12
Observed Loss1
Observed Complex0
Frequencyn/a


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