A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5427166



Internal ID206074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:113944368..113949063hg38UCSC Ensembl
chr1:114486990..114491685hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg384696
hg194696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16889561
Samples
Known GenesHIPK1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5427166
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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