A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6574354



Internal ID20947425
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 StatusM
Merged Variants
Supporting Variantsnssv18269543
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)nsv6574354
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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