A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17688831



Internal ID112497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:68612001..69442414hg38UCSC Ensembl
chr12:69005781..69836194hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg38830414
hg19830414
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556951
Supporting Variants
Samples
Known GenesCPM, CPSF6, LOC100130075, LOC100507250, LYZ, MDM2, MIR1279, NUP107, RAP1B, SLC35E3, SNORA70G, YEATS4
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17688831
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.000624


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