A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507214



Internal ID283943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47179588..47180185hg38UCSC Ensembl
chr11:47201139..47201736hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17045311
Samples
Known GenesMIR6745, PACSIN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507214
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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