A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18173580



Internal ID20740620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:98007623..98013565hg38UCSC Ensembl
chr8:99019851..99025793hg19UCSC Ensembl
Cytoband8q22.2
Allele length
AssemblyAllele length
hg385943
hg195943
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6426055
Supporting Variants
Samples
Known GenesMATN2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18173580
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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