A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18057286



Internal ID20624326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:216196408..216196827hg38UCSC Ensembl
chr1:216369750..216370169hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38420
hg19420
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316341
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18057286
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.0008


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