A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5975448



Internal ID22750383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:57580296..59028517hg38UCSC Ensembl
chr14:58047014..59495235hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg381448222
hg191448222
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17387549
Samples
Known GenesACTR10, ARID4A, C14orf37, DACT1, FLJ31306, KIAA0586, PSMA3, SLC35F4, TIMM9, TOMM20L
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5975448
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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