A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5971855



Internal ID22746790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:7691089..7695014hg38UCSC Ensembl
chr1:7751149..7755074hg19UCSC Ensembl
Cytoband1p36.23
Allele length
AssemblyAllele length
hg383926
hg193926
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387706
Samples
Known GenesCAMTA1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5971855
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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