A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5977514



Internal ID22752449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:44396767..44464672hg38UCSC Ensembl
chr19:44900930..44968894hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg3867906
hg1967965
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17395232
Samples
Known GenesZNF229, ZNF285
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5977514
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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