A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557862



Internal ID16345271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27780362..27780909hg38UCSC Ensembl
Innerchr12:27933295..27933842hg19UCSC Ensembl
Innerchr12:27824562..27825109hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38548
hg19548
hg18548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2429n54
Supporting Variantsnssv790087
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557862
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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