A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14298235



Internal ID22232223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:228894571..228895191hg38UCSC Ensembl
chr2:229759287..229759907hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg38621
hg19621
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3526200
Supporting Variants
SamplesHG00733
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14298235
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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