A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17146097



Internal ID21487748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75503830..75503830hg38UCSC Ensembl
chr5:74799655..74799655hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5644058
Supporting Variants
SamplesNA18534
Known GenesCOL4A3BP
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17146097
Frequency
Sample Size35
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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