A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5929930



Internal ID22705189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:78267624..78267687hg38UCSC Ensembl
chr17:76263705..76263768hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17388746
Samples
Known GenesLOC100996291
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5929930
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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