A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14359510



Internal ID22305940
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3228609
Supporting Variants
SamplesNA19240
Known GenesKLRB1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14359510
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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