A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968065



Internal ID22743000
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14742874..15551121hg38UCSC Ensembl
chr3:14784381..15592628hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38808248
hg19808248
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17415206
Samples
Known GenesC3orf20, CAPN7, COL6A4P1, COLQ, EAF1, FGD5, FGD5-AS1, METTL6, MIR4270, MRPS25, NR2C2, SH3BP5, SH3BP5-AS1, ZFYVE20
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968065
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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