A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5442108



Internal ID220549
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:118092730..118094388hg38UCSC Ensembl
chr2:118850306..118851964hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg381659
hg191659
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16918360
Samples
Known GenesINSIG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5442108
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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