A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971314



Internal ID22746249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:6997572..9925631hg38UCSC Ensembl
chr7:7037203..9965263hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg382928060
hg192928061
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1841n209
Supporting Variantsnssv17430926
Samples
Known GenesC1GALT1, COL28A1, GLCCI1, ICA1, LOC100131257, LOC101927354, MIOS, NXPH1, PER4, RPA3, RPA3-AS1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971314
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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