A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5464221



Internal ID242102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:140151550..140151749hg38UCSC Ensembl
chr4:141072704..141072903hg19UCSC Ensembl
Cytoband4q31.1
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16958529
Samples
Known GenesMAML3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5464221
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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