A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973691



Internal ID22748626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:6312424..9433879hg38UCSC Ensembl
chr6:6312657..9434112hg19UCSC Ensembl
Cytoband6p24.3
Allele length
AssemblyAllele length
hg383121456
hg193121456
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17432589
Samples
Known GenesBLOC1S5, BLOC1S5-TXNDC5, BMP6, CAGE1, DSP, EEF1E1, EEF1E1-BLOC1S5, F13A1, HULC, LOC100506207, LY86, LY86-AS1, PIP5K1P1, RIOK1, RREB1, SCARNA27, SLC35B3, SNRNP48, SSR1, TXNDC5
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973691
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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