A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv558839



Internal ID16346248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:49961598..49964685hg38UCSC Ensembl
Innerchr12:50355381..50358468hg19UCSC Ensembl
Innerchr12:48641648..48644735hg18UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg383088
hg193088
hg183088
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2618n54
Supporting Variantsnssv795825
Samples
Known GenesAQP5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv558839
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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