A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976461



Internal ID22751396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27448313..28588967hg38UCSC Ensembl
chr2:27671180..28811834hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg381140655
hg191140655
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17408351
Samples
Known GenesBRE, BRE-AS1, C2orf16, CCDC121, FLJ31356, FNDC4, FOSL2, GCKR, GPN1, IFT172, LOC100505716, MIR4263, MRPL33, PLB1, RBKS, SLC4A1AP, SUPT7L, ZNF512
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976461
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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