A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18139606



Internal ID20706646
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:130965461..130969517hg38UCSC Ensembl
chr6:131286601..131290657hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg384057
hg194057
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6605204
Supporting Variants
Samples
Known GenesEPB41L2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18139606
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00015


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