A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970379



Internal ID22745314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1516497..2069901hg38UCSC Ensembl
chr16:1566498..2119902hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38553405
hg19553405
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17380053
Samples
Known GenesCRAMP1L, EME2, FAHD1, GFER, HAGH, HN1L, HS3ST6, IFT140, IGFALS, LINC00254, MAPK8IP3, MEIOB, MIR3177, MRPS34, MSRB1, NDUFB10, NME3, NOXO1, NPW, NTHL1, NUBP2, RNF151, RPL3L, RPS2, SLC9A3R2, SNHG9, SNORA10, SNORA64, SNORA78, SPSB3, SYNGR3, TBL3, TMEM204, TSC2, ZNF598
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970379
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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