A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5500088



Internal ID277033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32684061..32688819hg38UCSC Ensembl
chr12:32836995..32841753hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg384759
hg194759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17055622
Samples
Known GenesDNM1L
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5500088
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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