A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15761499



Internal ID22095992
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130628722..130634264hg38UCSC Ensembl
chr3:130347566..130353108hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385543
hg195543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4444409
Supporting Variants
Samples
Known GenesCOL6A6
MethodSequencing
Analysis
Platform
CommentsSVTYPE=DEL;REPTYPE=SIMPLEDEL
ReferenceGenome_in_a_Bottle
Pubmed ID32541955
Accession Number(s)nssv15761499
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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