A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17448379



Internal ID22506249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69081599..69085551hg38UCSC Ensembl
chr8:69993834..69997786hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg383953
hg193953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5914119
Supporting Variants
Samples
Known GenesLOC100505718
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17448379
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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