A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5434197



Internal ID212879
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:227689068..227704201hg38UCSC Ensembl
chr1:227876769..227891902hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3815134
hg1915134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16898259
Samples
Known GenesZNF847P
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5434197
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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