A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557842



Internal ID16345251
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27779952..27780856hg38UCSC Ensembl
Innerchr12:27932885..27933789hg19UCSC Ensembl
Innerchr12:27824152..27825056hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38905
hg19905
hg18905
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2425n54
Supporting Variantsnssv790042, nssv790044, nssv790045, nssv790043, nssv790041
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557842
Frequency
Sample Size17421
Observed Gain2
Observed Loss3
Observed Complex0
Frequencyn/a


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