A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17445948



Internal ID22503818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:6546656..6552673hg38UCSC Ensembl
chr8:6404177..6410194hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg386018
hg196018
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5971740
Supporting Variants
Samples
Known GenesANGPT2, MCPH1
MethodSequencing
Analysis
Platform
CommentsDESC=[BREAKPOINT1]
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17445948
Frequency
Sample Size914
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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