A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5670902



Internal ID21619207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:19240629..21558840hg38UCSC Ensembl
chr17:19143942..21462103hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg382318212
hg192318162
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17094190
SamplesNA20509
Known GenesAKAP10, ALDH3A1, ALDH3A2, B9D1, C17orf103, C17orf51, CCDC144CP, CCDC144NL, CDRT15L2, DHRS7B, EPN2, EPN2-AS1, EPN2-IT1, KCNJ12, KCNJ18, KRT16P3, LGALS9B, LOC100287072, LOC440416, MAP2K3, MAPK7, MFAP4, MIR1180, RNF112, SLC47A1, SLC47A2, SNORA59A, SNORA59B, SPECC1, TMEM11, ULK2, USP22
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5670902
Frequency
Sample Size35
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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