A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975421



Internal ID22750356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:47986775..47998139hg38UCSC Ensembl
chr6:47954511..47965875hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3811365
hg1911365
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17431871
Samples
Known GenesPTCHD4
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975421
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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