A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5515948



Internal ID292421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45279283..45280369hg38UCSC Ensembl
chr17:43356650..43357736hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg381087
hg191087
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17713361
Samples
Known GenesMAP3K14
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5515948
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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