A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431777



Internal ID21393779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:50426732..50427993hg38UCSC Ensembl
chr12:50820515..50821776hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381262
hg191262
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15746494
SamplesNB08
Known GenesLARP4
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431777
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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