A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5562190



Internal ID335149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:49821397..49822804hg38UCSC Ensembl
chr12:50215180..50216587hg19UCSC Ensembl
Cytoband12q13.12
Allele length
AssemblyAllele length
hg381408
hg191408
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17056913
Samples
Known GenesNCKAP5L
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5562190
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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