A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17127750



Internal ID21406107
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123959737..123959828hg38UCSC Ensembl
chr3:123678584..123678675hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg3892
hg1992
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5567314
Supporting Variants
SamplesHG00512
Known GenesCCDC14
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17127750
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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