A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5414947



Internal ID194212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:14948000..14953000hg38UCSC Ensembl
chr1:15274496..15279496hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg385001
hg195001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16895869
Samples
Known GenesKAZN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5414947
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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