A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18137124



Internal ID20704164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:116128192..116128614hg38UCSC Ensembl
chr6:116449355..116449777hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38423
hg19423
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6615642
Supporting Variants
Samples
Known GenesNT5DC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18137124
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00031


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