A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14331893



Internal ID22239007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170288051..170292750hg38UCSC Ensembl
chr6:170597139..170601838hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg384700
hg194700
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3203555
Supporting Variants
SamplesHG00733
Known GenesDLL1, FAM120B
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14331893
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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