A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17352294



Internal ID22577963
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 StatusS
Merged Variantsnsv5969024
Supporting Variants
Samples
Known GenesSLC38A1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17352294
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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