A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18080592



Internal ID20647632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161200301..161201400hg38UCSC Ensembl
chr2:162056812..162057911hg19UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg381100
hg191100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6354104
Supporting Variants
Samples
Known GenesTANK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18080592
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0001


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