A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555923



Internal ID329072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:111599044..112091945hg38UCSC Ensembl
chr3:111317891..111810792hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38492902
hg19492902
Variant TypeOTHER sequence alteration
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16937954
Samples
Known GenesABHD10, C3orf52, CD96, PHLDB2, PLCXD2, TAGLN3, TMPRSS7
MethodSequencing
Analysis
Platform
Commentscomplex variant
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555923
Frequency
Sample Size3202
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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