A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14331245



Internal ID22231897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:152276875..152277290hg38UCSC Ensembl
chr6:152598010..152598425hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg38416
hg19416
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3197493
Supporting Variants
SamplesHG00733
Known GenesSYNE1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14331245
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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