A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5972377



Internal ID22747312
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47732141..47733551hg38UCSC Ensembl
chr6:47699877..47701287hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg381411
hg191411
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17432949
Samples
Known Genes
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5972377
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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