A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974385



Internal ID22749320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64078330..67334176hg38UCSC Ensembl
chr2:64305464..67561308hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg383255847
hg193255845
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17393871
Samples
Known GenesACTR2, AFTPH, CEP68, LGALSL, LINC00309, LOC339807, LOC400958, LOC644838, MEIS1, MEIS1-AS3, MIR4434, MIR4778, PELI1, RAB1A, SERTAD2, SLC1A4, SPRED2
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974385
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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