A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975501



Internal ID22750436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:7543884..10668799hg38UCSC Ensembl
chr7:7583515..10708426hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg383124916
hg193124912
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1841n209
Supporting Variantsnssv17440859
Samples
Known GenesGLCCI1, ICA1, MIOS, NXPH1, PER4, RPA3, RPA3-AS1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975501
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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