A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4431622



Internal ID21393624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104975006..104979767hg38UCSC Ensembl
chr12:105368784..105373545hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384762
hg194762
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv182n172
Supporting Variantsnssv15753439
SamplesNB11
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceDeng_et_al_2019
Pubmed ID31718558
Accession Number(s)nsv4431622
Frequency
Sample Size15
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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