A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6522003



Internal ID20895364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:13381401..13383700hg38UCSC Ensembl
chr19:13492215..13494514hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382300
hg192300
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18045844
Samples
Known GenesCACNA1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6522003
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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