A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297505



Internal ID22279557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225035588..225035649hg38UCSC Ensembl
chr2:225900305..225900366hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg3862
hg1962
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3525177
Supporting Variants
SamplesNA19239
Known GenesDOCK10
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14297505
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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