A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17398052



Internal ID22455922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40254400..40254700hg38UCSC Ensembl
chr19:40760307..40760607hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38301
hg19301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933984
Supporting Variants
Samples
Known GenesAKT2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17398052
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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