A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17443928



Internal ID22501798
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:67210788..72603267hg38UCSC Ensembl
chr7:66675775..72068252hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg385392480
hg195392478
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5976419
Supporting Variants
Samples
Known GenesAUTS2, CALN1, LOC100507468, LOC101929736, MIR3914-1, MIR3914-2, PMS2P4, STAG3L4, TYW1, TYW1B, WBSCR17
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17443928
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer