A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18255220



Internal ID20822260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:129979633..131364141hg38UCSC Ensembl
chr2:130737206..132121714hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg381384509
hg191384509
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6542883
Supporting Variants
Samples
Known GenesAMER3, ARHGEF4, CCDC115, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAM168B, FAR2P1, FAR2P2, GPR148, IMP4, LOC440910, LOC646743, MED15P9, MZT2B, PLEKHB2, POTEE, POTEF, POTEI, POTEJ, PTPN18, RAB6C, RAB6C-AS1, SMPD4, TISP43, TUBA3E, WTH3DI
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18255220
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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