A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17449544



Internal ID22507414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:66565589..66793679hg38UCSC Ensembl
chr7:66030576..66258666hg19UCSC Ensembl
Cytoband7q11.21
Allele length
AssemblyAllele length
hg38228091
hg19228091
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5969789
Supporting Variants
Samples
Known GenesKCTD7, LOC493754, RABGEF1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17449544
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