A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17148122



Internal ID21454505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73247503..73247503hg38UCSC Ensembl
chr5:72543330..72543330hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg3854
hg1954
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5629763
Supporting Variants
SamplesHG02011
Known Genes
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17148122
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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