A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3228609



Internal ID22370740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:9606692..9606776hg38UCSC Ensembl
chr12:9759288..9759372hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1728n152
Supporting Variantsnssv14359509, nssv14359508, nssv14359510
SamplesNA19238, NA19239, NA19240
Known GenesKLRB1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3228609
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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