A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17144724



Internal ID21496215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:104774081..104774392hg38UCSC Ensembl
chr6:105221956..105222267hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg38312
hg19312
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5565951
Supporting Variants
SamplesNA19238
Known GenesHACE1
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17144724
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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