A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv4010306



Internal ID22071937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117611519..117613722hg38UCSC Ensembl
Outerchr12:117611412..117613773hg38UCSC Ensembl
Innerchr12:118049324..118051527hg19UCSC Ensembl
Outerchr12:118049217..118051578hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg382362
hg192362
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1154860
Supporting Variants
Samples
Known GenesKSR2
MethodSNP array
AnalysisDefault settings
Platform
Comments
ReferenceLou_et_al_2014
Pubmed ID25026903
Accession Number(s)nssv4010306
Frequency
Sample Size131
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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