A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14331257



Internal ID22279378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:152371870..152371935hg38UCSC Ensembl
chr6:152693005..152693070hg19UCSC Ensembl
Cytoband6q25.2
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3198950
Supporting Variants
SamplesNA19239
Known GenesSYNE1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14331257
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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