A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17409596



Internal ID22467466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38328878..38328878hg38UCSC Ensembl
chr19:38819518..38819518hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5975145
Supporting Variants
Samples
Known GenesKCNK6
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17409596
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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