A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5422179



Internal ID201230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111791639..111791694hg38UCSC Ensembl
chr1:112334261..112334316hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3856
hg1956
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16907701
Samples
Known GenesKCND3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5422179
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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