A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18144178



Internal ID20711218
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:45549964..45550311hg38UCSC Ensembl
chr6:45517701..45518048hg19UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6398787
Supporting Variants
Samples
Known GenesRUNX2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18144178
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00387


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