A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557839



Internal ID16345248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27779952..27780458hg38UCSC Ensembl
Innerchr12:27932885..27933391hg19UCSC Ensembl
Innerchr12:27824152..27824658hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38507
hg19507
hg18507
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2422n54
Supporting Variantsnssv790037, nssv790036, nssv790035
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557839
Frequency
Sample Size17421
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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