A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18085119



Internal ID20652159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:210289401..210291100hg38UCSC Ensembl
chr2:211154125..211155824hg19UCSC Ensembl
Cytoband2q34
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6353253
Supporting Variants
Samples
Known GenesMYL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18085119
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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