A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5499401



Internal ID276375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29392082..29392758hg38UCSC Ensembl
chr12:29545015..29545691hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38677
hg19677
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056963
Samples
Known GenesOVCH1-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5499401
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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