A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557830



Internal ID16345239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27779899..27780458hg38UCSC Ensembl
Innerchr12:27932832..27933391hg19UCSC Ensembl
Innerchr12:27824099..27824658hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38560
hg19560
hg18560
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2422n54
Supporting Variantsnssv789975, nssv789976
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557830
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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