A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505265



Internal ID282047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:31722163..31723226hg38UCSC Ensembl
chr12:31875097..31876160hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg381064
hg191064
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17057179
Samples
Known GenesAMN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505265
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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