A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968220



Internal ID22743156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:2373484..2379925hg38UCSC Ensembl
chr6:2373718..2380159hg19UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg386442
hg196442
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435273
Samples
Known GenesGMDS-AS1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968220
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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