A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17127602



Internal ID21440760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:69964323..69964735hg38UCSC Ensembl
chr3:70013474..70013886hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5564995
Supporting Variants
SamplesHG00732
Known GenesMITF
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17127602
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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