A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439022



Internal ID217570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:179516810..179517534hg38UCSC Ensembl
chr2:180381537..180382261hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg38725
hg19725
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16921248
Samples
Known GenesZNF385B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439022
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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