A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17064953



Internal ID21463482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:29040376..29042573hg38UCSC Ensembl
chr1:29366888..29369085hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg382198
hg192198
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572842
Supporting Variants
SamplesHG03009
Known GenesEPB41
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17064953
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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