A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18138692



Internal ID20705732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125753449..125754990hg38UCSC Ensembl
chr6:126074595..126076136hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg381542
hg191542
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6600267
Supporting Variants
Samples
Known GenesHEY2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18138692
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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