A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5969024



Internal ID22743959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:46251895..46307644hg38UCSC Ensembl
chr12:46645678..46701427hg19UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3855750
hg1955750
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17352294
Samples
Known GenesSLC38A1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5969024
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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