A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3111672



Internal ID21294938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31958834..31960882hg38UCSC Ensembl
Innerchr12:32111768..32113816hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg382049
hg192049
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14092593, nssv14093734
Samplessample348, sample299
Known GenesKIAA1551
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nsv3111672
Frequency
Sample Size467
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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