A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17147467



Internal ID21402928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:48848787..48848847hg38UCSC Ensembl
chr7:48888383..48888443hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5567088
Supporting Variants
SamplesHG00171
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17147467
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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