A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5436708



Internal ID215317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:101368418..101375415hg38UCSC Ensembl
chr2:101984880..101991877hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg386998
hg196998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16917037
Samples
Known GenesCREG2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5436708
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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