A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14324875



Internal ID22234702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33678401..33691700hg38UCSC Ensembl
chr6:33646178..33659477hg19UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3813300
hg1913300
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3195088
Supporting Variants
SamplesHG00733
Known GenesITPR3
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14324875
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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