A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18269543



Internal ID20836583
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:2721509..7652209hg38UCSC Ensembl
chr5:2721623..7652322hg19UCSC Ensembl
Cytoband5p15.31
Allele length
AssemblyAllele length
hg384930701
hg194930700
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6574354
Supporting Variants
Samples
Known GenesADAMTS16, ADCY2, C5orf38, FLJ33360, IRX1, IRX2, KIAA0947, LINC01018, LINC01019, LINC01020, LOC100505625, LOC101929153, LOC102467074, LOC102467075, LOC442132, MED10, MIR4278, MIR4454, NSUN2, PAPD7, SRD5A1, UBE2QL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18269543
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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