A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5976653



Internal ID22751588
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10740038..10740749hg38UCSC Ensembl
chr2:10880164..10880875hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38712
hg19712
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17409252
Samples
Known GenesATP6V1C2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5976653
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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