A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5665112



Internal ID21613417
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:16806184..18509508hg38UCSC Ensembl
chr17:16709498..18412822hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381703325
hg191703325
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17083287
Samples
Known GenesALKBH5, ATPAF2, COPS3, DRG2, EVPLL, FLCN, FLII, FLJ35934, GID4, KRT16P1, KRT16P2, LGALS9C, LLGL1, LOC339240, LRRC48, MED9, MIEF2, MIR33B, MIR6777, MIR6778, MPRIP, MYO15A, NT5M, PEMT, PLD6, RAI1, RASD1, SHMT1, SMCR5, SMCR8, SMCR9, SREBF1, TNFRSF13B, TOM1L2, TOP3A
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nsv5665112
Frequency
Sample Size35
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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