A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5968369



Internal ID22743304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:127459348..127614077hg38UCSC Ensembl
chr2:128216924..128371652hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38154730
hg19154729
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17397127
Samples
Known GenesIWS1, MYO7B
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5968369
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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