A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17380801



Internal ID22438671
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:86344334..89254011hg38UCSC Ensembl
chr1:86810017..89719694hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg382909678
hg192909678
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968895
Supporting Variants
Samples
Known GenesCCBL2, CLCA1, CLCA2, CLCA3P, CLCA4, GBP1, GBP2, GBP3, GBP4, GBP7, GTF2B, HS2ST1, LINC01140, LMO4, LOC100505768, MIR7856, ODF2L, PKN2, RBMXL1, SEP15, SH3GLB1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17380801
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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