A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5973406



Internal ID22748342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39495172..39785617hg38UCSC Ensembl
chr1:39960844..40251289hg19UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38290446
hg19290446
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17379581
Samples
Known GenesBMP8A, BMP8B, HEYL, HPCAL4, NT5C1A, OXCT2, PABPC4, PPIE, PPIEL, SNORA55
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5973406
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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