A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973893



Internal ID22748828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:51031595..51031595hg38UCSC Ensembl
chr19:51534851..51534851hg19UCSC Ensembl
Cytoband19q13.41
Allele length
AssemblyAllele length
hg38136
hg19136
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395158
Samples
Known GenesKLK12
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973893
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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