A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17421992



Internal ID22479862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:82819968..82820174hg38UCSC Ensembl
chr4:83741121..83741327hg19UCSC Ensembl
Cytoband4q21.22
Allele length
AssemblyAllele length
hg38207
hg19207
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5894786
Supporting Variants
Samples
Known GenesSEC31A
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17421992
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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