A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18003471



Internal ID20570511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:74551533..74555297hg38UCSC Ensembl
chr12:74945313..74949077hg19UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg383765
hg193765
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6467586
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18003471
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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