A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17395797



Internal ID22453667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40384415..40386464hg38UCSC Ensembl
chr19:40890322..40892371hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg382050
hg192050
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5946261
Supporting Variants
Samples
Known GenesHIPK4
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17395797
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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