A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557829



Internal ID16345238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27776841..27780963hg38UCSC Ensembl
Innerchr12:27929774..27933896hg19UCSC Ensembl
Innerchr12:27821041..27825163hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg384123
hg194123
hg184123
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv789974, nssv789973
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557829
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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