A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972709



Internal ID22747644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:43375266..43380606hg38UCSC Ensembl
chr7:43414865..43420205hg19UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg385341
hg195341
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17447542
Samples
Known GenesHECW1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972709
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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