A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17147701



Internal ID21464566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:49547298..49549675hg38UCSC Ensembl
chr7:49586894..49589271hg19UCSC Ensembl
Cytoband7p12.2
Allele length
AssemblyAllele length
hg382378
hg192378
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5581354
Supporting Variants
SamplesHG03065
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17147701
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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