A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5530381



Internal ID306368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:12027942..12031811hg38UCSC Ensembl
chr17:11931259..11935128hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg383870
hg193870
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17711471
Samples
Known GenesMAP2K4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5530381
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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