A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975676



Internal ID22750611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:30871057..30871912hg38UCSC Ensembl
chr1:31343904..31344759hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38856
hg19856
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17353972
Samples
Known GenesSDC3
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975676
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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