A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5967796



Internal ID22742732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:127334865..127360536hg38UCSC Ensembl
chr6:127656010..127681681hg19UCSC Ensembl
Cytoband6q22.33
Allele length
AssemblyAllele length
hg3825672
hg1925672
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17424804
Samples
Known GenesECHDC1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5967796
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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