A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18255231



Internal ID20822271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130208252..131464150hg38UCSC Ensembl
chr2:130965825..132221723hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381255899
hg191255899
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6552768
Supporting Variants
Samples
Known GenesAMER3, ARHGEF4, CCDC115, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P2, GPR148, IMP4, LINC01120, LOC401010, LOC440910, LOC646743, PLEKHB2, POTEE, POTEI, POTEJ, PTPN18, RNU6-81P, TISP43, WTH3DI
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18255231
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0.00304


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