A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359196



Internal ID22584865
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246239515..246720084hg38UCSC Ensembl
chr1:246402817..246883386hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38480570
hg19480570
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5968424
Supporting Variants
Samples
Known GenesCNST, LOC255654, SMYD3, TFB2M
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359196
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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