A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14330312



Internal ID22269776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138171024..138171397hg38UCSC Ensembl
chr6:138492161..138492534hg19UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38374
hg19374
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3528766
Supporting Variants
SamplesNA19239
Known GenesKIAA1244
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14330312
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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