A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976419



Internal ID22751354
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 StatusM
Merged Variants
Supporting Variantsnssv17443928
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)nsv5976419
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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