A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14296940



Internal ID22161839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:202897889..202899060hg38UCSC Ensembl
chr2:203762612..203763783hg19UCSC Ensembl
Cytoband2q33.2
Allele length
AssemblyAllele length
hg381172
hg191172
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3207467
Supporting Variants
SamplesHG00514
Known GenesWDR12
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14296940
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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