A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5974407



Internal ID22749342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:81628747..84582693hg38UCSC Ensembl
chr2:81855871..84809817hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg382953947
hg192953947
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17396433
Samples
Known GenesDNAH6, FUNDC2P2, LOC1720, SUCLG1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5974407
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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