A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18256824



Internal ID20823864
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:129115769..130999356hg38UCSC Ensembl
chr2:129873342..131756929hg19UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg381883588
hg191883588
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6536888
Supporting Variants
Samples
Known GenesAMER3, ARHGEF4, CCDC115, CCDC74B, CFC1, CFC1B, CYP4F30P, CYP4F62P, FAR2P1, FAR2P2, GPR148, IMP4, LOC389033, LOC646743, MED15P9, MZT2B, POTEF, POTEI, POTEJ, PTPN18, RAB6C, RAB6C-AS1, SMPD4, TISP43, TUBA3E
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18256824
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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