A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6572148



Internal ID20945219
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:33560391..36411977hg38UCSC Ensembl
chr5:33560496..36412079hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg382851587
hg192851584
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18268216
Samples
Known GenesADAMTS12, AGXT2, AMACR, BRIX1, C1QTNF3, C1QTNF3-AMACR, CAPSL, DNAJC21, IL7R, LMBRD2, LOC100506406, MIR580, NADK2, PRLR, RAD1, RAI14, RANBP3L, RXFP3, SKP2, SLC45A2, SPEF2, TTC23L, UGT3A1, UGT3A2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6572148
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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