A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18137139



Internal ID20704179
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116243301..116250300hg38UCSC Ensembl
chr6:116564464..116571463hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg387000
hg197000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6612342
Supporting Variants
Samples
Known GenesNT5DC1, TSPYL4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18137139
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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