A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5936536



Internal ID22711892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:127940393..127944448hg38UCSC Ensembl
chr12:128424938..128428993hg19UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg384056
hg194056
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17368713
Samples
Known GenesLINC00507
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5936536
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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