A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18065605



Internal ID20632645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94118168..94124648hg38UCSC Ensembl
chr1:94583724..94590204hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg386481
hg196481
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321293
Supporting Variants
Samples
Known GenesABCA4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18065605
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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