A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14299062



Internal ID22122709
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232836271..232836331hg38UCSC Ensembl
chr2:233700981..233701041hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3206205
Supporting Variants
SamplesHG00512
Known GenesGIGYF2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14299062
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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