A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18076255



Internal ID20643295
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127396187..127397532hg38UCSC Ensembl
chr2:128153763..128155108hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381346
hg191346
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6355527
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18076255
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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