A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5970718



Internal ID22745653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:73440763..73441636hg38UCSC Ensembl
chr7:72855093..72855966hg19UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38874
hg19874
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17430466
Samples
Known GenesBAZ1B
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5970718
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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