A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18112272



Internal ID20679312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:172142798..172143450hg38UCSC Ensembl
chr4:173063949..173064601hg19UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38653
hg19653
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6386710
Supporting Variants
Samples
Known GenesGALNTL6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18112272
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00016


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