A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18077199



Internal ID20644239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:138014401..138015200hg38UCSC Ensembl
chr2:138771971..138772770hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg38800
hg19800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6346437
Supporting Variants
Samples
Known GenesHNMT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18077199
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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