A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18147222



Internal ID20714262
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:80038701..80040200hg38UCSC Ensembl
chr6:80748418..80749917hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg381500
hg191500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6402665
Supporting Variants
Samples
Known GenesTTK
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18147222
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00069


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