A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976208



Internal ID22751143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:29022566..29214534hg38UCSC Ensembl
chr1:29349078..29541046hg19UCSC Ensembl
Cytoband1p35.3
Allele length
AssemblyAllele length
hg38191969
hg19191969
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17367034
Samples
Known GenesEPB41, MECR, SRSF4, TMEM200B
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976208
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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