A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14327209



Internal ID22281978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:44543808..44548000hg38UCSC Ensembl
chr6:44511545..44515737hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg384193
hg194193
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3190767
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14327209
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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