A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6145264



Internal ID344469
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17970000..18046000hg38UCSC Ensembl
chr19:18080809..18156810hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg3876001
hg1976002
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17721989
Samples
Known GenesARRDC2, KCNN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv6145264
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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