A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17422253



Internal ID22480123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:44594542..44748679hg38UCSC Ensembl
chr4:44596559..44750696hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38154138
hg19154138
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5975420
Supporting Variants
Samples
Known GenesGNPDA2, GUF1, YIPF7
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17422253
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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