A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17125679



Internal ID21418019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130628722..130634263hg38UCSC Ensembl
chr3:130347566..130353107hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385542
hg195542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5572282
Supporting Variants
SamplesHG00731
Known GenesCOL6A6
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17125679
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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